Canonical Allele Identifier: CA2582144688

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2145036113
• gnomAD v3: 19-4090494-C-G
• gnomAD v4: 19-4090494-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090494C>G , CM000681.2:g.4090494C>G	GRCh38
NC_000019.9:g.4090492C>G , CM000681.1:g.4090492C>G	GRCh37
NC_000019.8:g.4041492C>G	NCBI36
NG_007996.1:g.38635G>C , LRG_750:g.38635G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1746G>C
ENST00000688002.1:n.3458G>C
ENST00000688751.1:n.443G>C
ENST00000689792.1:n.1211G>C
ENST00000262948.10:c.*104G>C MANE Select	ENSP00000262948.4:n.*104G>C
ENST00000262948.9:c.*104G>C	ENSP00000262948.3:n.*104G>C
ENST00000394867.8:c.*104G>C	ENSP00000378336.1:n.*104G>C
ENST00000597263.5:n.492G>C
ENST00000600584.5:n.2756G>C
ENST00000601786.5:n.1608G>C
NM_030662.3:c.*104G>C , LRG_750t1:c.*104G>C	NP_109587.1:n.*104G>C
XM_006722799.2:c.*104G>C	XP_006722862.1:n.*104G>C
XM_011528133.1:c.*104G>C	XP_011526435.1:n.*104G>C
NM_030662.4:c.*104G>C MANE Select	NP_109587.1:n.*104G>C