Canonical Allele Identifier: CA631714496

Gene: MAP2K2

Linked Data

• dbSNP Id: rs376075475
• gnomAD v2: 19-4099166-G-C
• gnomAD v3: 19-4099168-G-C
• gnomAD v4: 19-4099168-G-C
• MyVariant Identifiers: chr19:g.4099166G>C (hg19) ; chr19:g.4099168G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099168G>C , CM000681.2:g.4099168G>C	GRCh38
NC_000019.9:g.4099166G>C , CM000681.1:g.4099166G>C	GRCh37
NC_000019.8:g.4050166G>C	NCBI36
NG_007996.1:g.29961C>G , LRG_750:g.29961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1358+33C>G
ENST00000687128.1:n.1391C>G
ENST00000688002.1:n.1246C>G
ENST00000689792.1:n.823+33C>G
ENST00000262948.10:c.919+33C>G MANE Select	ENSP00000262948.4:n.919+33C>G
ENST00000262948.9:c.919+33C>G	ENSP00000262948.3:n.919+33C>G
ENST00000394867.8:c.628+33C>G	ENSP00000378336.1:n.628+33C>G
ENST00000595715.1:n.734+33C>G
ENST00000597263.5:n.169+1851C>G
ENST00000599021.1:c.30-1825C>G
ENST00000600584.5:n.1479+33C>G
ENST00000601786.5:n.1220+33C>G
NM_030662.3:c.919+33C>G , LRG_750t1:c.919+33C>G	NP_109587.1:n.919+33C>G
XM_006722799.2:c.705+1851C>G	XP_006722862.1:n.705+1851C>G
XM_011528133.1:c.349+33C>G	XP_011526435.1:n.349+33C>G
XM_017026989.1:c.919+33C>G	XP_016882478.1:n.919+33C>G
XM_017026990.1:c.705+1851C>G	XP_016882479.1:n.705+1851C>G
NM_030662.4:c.919+33C>G MANE Select	NP_109587.1:n.919+33C>G