Canonical Allele Identifier: CA9090787

Gene: MAP2K2

Linked Data

• dbSNP Id: rs761149397
• ExAC: 19:4099175 G / A
• gnomAD v2: 19-4099175-G-A
• gnomAD v3: 19-4099177-G-A
• gnomAD v4: 19-4099177-G-A
• MyVariant Identifiers: chr19:g.4099175G>A (hg19) ; chr19:g.4099177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099177G>A , CM000681.2:g.4099177G>A	GRCh38
NC_000019.9:g.4099175G>A , CM000681.1:g.4099175G>A	GRCh37
NC_000019.8:g.4050175G>A	NCBI36
NG_007996.1:g.29952C>T , LRG_750:g.29952C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1358+24C>T
ENST00000687128.1:n.1382C>T
ENST00000688002.1:n.1237C>T
ENST00000689792.1:n.823+24C>T
ENST00000262948.10:c.919+24C>T MANE Select	ENSP00000262948.4:n.919+24C>T
ENST00000262948.9:c.919+24C>T	ENSP00000262948.3:n.919+24C>T
ENST00000394867.8:c.628+24C>T	ENSP00000378336.1:n.628+24C>T
ENST00000595715.1:n.734+24C>T
ENST00000597263.5:n.169+1842C>T
ENST00000599021.1:c.30-1834C>T
ENST00000600584.5:n.1479+24C>T
ENST00000601786.5:n.1220+24C>T
NM_030662.3:c.919+24C>T , LRG_750t1:c.919+24C>T	NP_109587.1:n.919+24C>T
XM_006722799.2:c.705+1842C>T	XP_006722862.1:n.705+1842C>T
XM_011528133.1:c.349+24C>T	XP_011526435.1:n.349+24C>T
XM_017026989.1:c.919+24C>T	XP_016882478.1:n.919+24C>T
XM_017026990.1:c.705+1842C>T	XP_016882479.1:n.705+1842C>T
NM_030662.4:c.919+24C>T MANE Select	NP_109587.1:n.919+24C>T