Canonical Allele Identifier: CA992821137

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040960299
• gnomAD v3: 19-4098986-C-G
• gnomAD v4: 19-4098986-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4098986C>G , CM000681.2:g.4098986C>G	GRCh38
NC_000019.9:g.4098984C>G , CM000681.1:g.4098984C>G	GRCh37
NC_000019.8:g.4049984C>G	NCBI36
NG_007996.1:g.30143G>C , LRG_750:g.30143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1358+215G>C
ENST00000687128.1:n.1573G>C
ENST00000688002.1:n.1428G>C
ENST00000689792.1:n.823+215G>C
ENST00000262948.10:c.919+215G>C MANE Select	ENSP00000262948.4:n.919+215G>C
ENST00000262948.9:c.919+215G>C	ENSP00000262948.3:n.919+215G>C
ENST00000394867.8:c.628+215G>C	ENSP00000378336.1:n.628+215G>C
ENST00000595715.1:n.734+215G>C
ENST00000597263.5:n.169+2033G>C
ENST00000599021.1:c.30-1643G>C
ENST00000600584.5:n.1479+215G>C
ENST00000601786.5:n.1220+215G>C
NM_030662.3:c.919+215G>C , LRG_750t1:c.919+215G>C	NP_109587.1:n.919+215G>C
XM_006722799.2:c.705+2033G>C	XP_006722862.1:n.705+2033G>C
XM_011528133.1:c.349+215G>C	XP_011526435.1:n.349+215G>C
XM_017026989.1:c.919+215G>C	XP_016882478.1:n.919+215G>C
XM_017026990.1:c.705+2033G>C	XP_016882479.1:n.705+2033G>C
NM_030662.4:c.919+215G>C MANE Select	NP_109587.1:n.919+215G>C