Canonical Allele Identifier: CA631536982
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1428643114
gnomAD v2: 19-4090330-TCTCC-T
gnomAD v3: 19-4090332-TCTCC-T
gnomAD v4: 19-4090332-TCTCC-T
MyVariant Identifiers: chr19:g.4090331_4090334del (hg19) chr19:g.4090333_4090336del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090335_4090338del , CM000681.2:g.4090335_4090338del GRCh38
NC_000019.9:g.4090333_4090336del , CM000681.1:g.4090333_4090336del GRCh37
NC_000019.8:g.4041333_4041336del NCBI36
NG_007996.1:g.38793_38796del , LRG_750:g.38793_38796del

Transcript Alleles

HGVS Amino-acid Change
ENST00000689792.1:n.1369_1372del
ENST00000262948.10:c.*262_*265del MANE Select ENSP00000262948.4:n.*262_*265del
ENST00000262948.9:c.*262_*265del ENSP00000262948.3:n.*262_*265del
ENST00000394867.8:c.*262_*265del ENSP00000378336.1:n.*262_*265del
ENST00000600584.5:n.2914_2917del
ENST00000601786.5:n.1766_1769del
NM_030662.3:c.*262_*265del , LRG_750t1:c.*262_*265del NP_109587.1:n.*262_*265del
XM_006722799.2:c.*262_*265del XP_006722862.1:n.*262_*265del
XM_011528133.1:c.*262_*265del XP_011526435.1:n.*262_*265del
NM_030662.4:c.*262_*265del MANE Select NP_109587.1:n.*262_*265del
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