Canonical Allele Identifier: CA504986757

Gene: MAP2K2

Linked Data

• dbSNP Id: rs886038700
• gnomAD v3: 19-4099316-G-C
• gnomAD v4: 19-4099316-G-C
• MyVariant Identifiers: chr19:g.4099314G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099316G>C , CM000681.2:g.4099316G>C	GRCh38
NC_000019.9:g.4099314G>C , CM000681.1:g.4099314G>C	GRCh37
NC_000019.8:g.4050314G>C	NCBI36
NG_007996.1:g.29813C>G , LRG_750:g.29813C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1243C>G
ENST00000687128.1:n.1243C>G
ENST00000688002.1:n.1098C>G
ENST00000689792.1:n.708C>G
ENST00000262948.10:c.804C>G MANE Select	ENSP00000262948.4:p.Pro268=
ENST00000262948.9:c.804C>G	ENSP00000262948.3:p.Pro268=
ENST00000394867.8:c.513C>G	ENSP00000378336.1:p.Pro171=
ENST00000593364.5:n.751C>G
ENST00000595715.1:n.619C>G
ENST00000597263.5:n.169+1703C>G
ENST00000599021.1:c.29+1703C>G
ENST00000600584.5:n.1364C>G
ENST00000601786.5:n.1105C>G
NM_030662.3:c.804C>G , LRG_750t1:c.804C>G	NP_109587.1:p.Pro268=
XM_006722799.2:c.705+1703C>G	XP_006722862.1:n.705+1703C>G
XM_011528133.1:c.234C>G	XP_011526435.1:p.Pro78=
XM_017026989.1:c.804C>G	XP_016882478.1:p.Pro268=
XM_017026990.1:c.705+1703C>G	XP_016882479.1:n.705+1703C>G
NM_030662.4:c.804C>G MANE Select	NP_109587.1:p.Pro268=