Canonical Allele Identifier: CA631537174
Gene: MAP2K2 HGNC NCBI

Linked Data

dbSNP Id: rs1471539970
gnomAD v2: 19-4090807-G-C
gnomAD v3: 19-4090809-G-C
gnomAD v4: 19-4090809-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.4090809G>C , CM000681.2:g.4090809G>C GRCh38
NC_000019.9:g.4090807G>C , CM000681.1:g.4090807G>C GRCh37
NC_000019.8:g.4041807G>C NCBI36
NG_007996.1:g.38320C>G , LRG_750:g.38320C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000394867.9:n.1532-101C>G
ENST00000688002.1:n.3244-101C>G
ENST00000688751.1:n.229-101C>G
ENST00000689792.1:n.997-101C>G
ENST00000262948.10:c.1093-101C>G MANE Select ENSP00000262948.4:n.1093-101C>G
ENST00000262948.9:c.1093-101C>G ENSP00000262948.3:n.1093-101C>G
ENST00000394867.8:c.802-101C>G ENSP00000378336.1:n.802-101C>G
ENST00000597263.5:n.278-101C>G
ENST00000599021.1:c.203-101C>G
ENST00000600584.5:n.2542-101C>G
ENST00000601786.5:n.1394-101C>G
NM_030662.3:c.1093-101C>G , LRG_750t1:c.1093-101C>G NP_109587.1:n.1093-101C>G
XM_006722799.2:c.814-101C>G XP_006722862.1:n.814-101C>G
XM_011528133.1:c.523-101C>G XP_011526435.1:n.523-101C>G
NM_030662.4:c.1093-101C>G MANE Select NP_109587.1:n.1093-101C>G