Canonical Allele Identifier: CA137955
Gene: MAP2K2 HGNC NCBI

Linked Data

ClinVar Variation Id: 40808
ClinVar RCV Id: RCV000039488 RCV000229923 RCV000443089 RCV000625449 RCV001813314 RCV003891460
dbSNP Id: rs201435249
ExAC: 19:4101221 C / T
gnomAD v2: 19-4101221-C-T
gnomAD v3: 19-4101223-C-T
gnomAD v4: 19-4101223-C-T
MyVariant Identifiers: chr19:g.4101221C>T (hg19) chr19:g.4101223C>T (hg38)
ERepo: CA137955/MONDO:0021060/004
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4101223C>T , CM000681.2:g.4101223C>T GRCh38
NC_000019.9:g.4101221C>T , CM000681.1:g.4101221C>T GRCh37
NC_000019.8:g.4052221C>T NCBI36
NG_007996.1:g.27906G>A , LRG_750:g.27906G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1019+6G>A
ENST00000687128.1:n.1019+6G>A
ENST00000689792.1:n.520+6G>A
ENST00000262948.10:c.580+6G>A MANE Select ENSP00000262948.4:n.580+6G>A
ENST00000262948.9:c.580+6G>A ENSP00000262948.3:n.580+6G>A
ENST00000394867.8:c.289+6G>A ENSP00000378336.1:n.289+6G>A
ENST00000593364.5:n.527+6G>A
ENST00000597008.5:n.181+6G>A
ENST00000597263.5:n.44+6G>A
ENST00000599345.1:n.850+6G>A
ENST00000601786.5:n.881+6G>A
ENST00000602167.5:n.300+6G>A
NM_030662.3:c.580+6G>A , LRG_750t1:c.580+6G>A NP_109587.1:n.580+6G>A
XM_006722799.2:c.580+6G>A XP_006722862.1:n.580+6G>A
XM_011528133.1:c.10+6G>A XP_011526435.1:n.10+6G>A
XM_017026989.1:c.580+6G>A XP_016882478.1:n.580+6G>A
XM_017026990.1:c.580+6G>A XP_016882479.1:n.580+6G>A
XM_017026991.1:c.580+6G>A XP_016882480.1:n.580+6G>A
NM_030662.4:c.580+6G>A MANE Select NP_109587.1:n.580+6G>A
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