Canonical Allele Identifier: CA631714500

Gene: MAP2K2

Linked Data

• dbSNP Id: rs1246006927
• gnomAD v2: 19-4099103-C-A
• gnomAD v3: 19-4099105-C-A
• gnomAD v4: 19-4099105-C-A
• MyVariant Identifiers: chr19:g.4099103C>A (hg19) ; chr19:g.4099105C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099105C>A , CM000681.2:g.4099105C>A	GRCh38
NC_000019.9:g.4099103C>A , CM000681.1:g.4099103C>A	GRCh37
NC_000019.8:g.4050103C>A	NCBI36
NG_007996.1:g.30024G>T , LRG_750:g.30024G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1358+96G>T
ENST00000687128.1:n.1454G>T
ENST00000688002.1:n.1309G>T
ENST00000689792.1:n.823+96G>T
ENST00000262948.10:c.919+96G>T MANE Select	ENSP00000262948.4:n.919+96G>T
ENST00000262948.9:c.919+96G>T	ENSP00000262948.3:n.919+96G>T
ENST00000394867.8:c.628+96G>T	ENSP00000378336.1:n.628+96G>T
ENST00000595715.1:n.734+96G>T
ENST00000597263.5:n.169+1914G>T
ENST00000599021.1:c.30-1762G>T
ENST00000600584.5:n.1479+96G>T
ENST00000601786.5:n.1220+96G>T
NM_030662.3:c.919+96G>T , LRG_750t1:c.919+96G>T	NP_109587.1:n.919+96G>T
XM_006722799.2:c.705+1914G>T	XP_006722862.1:n.705+1914G>T
XM_011528133.1:c.349+96G>T	XP_011526435.1:n.349+96G>T
XM_017026989.1:c.919+96G>T	XP_016882478.1:n.919+96G>T
XM_017026990.1:c.705+1914G>T	XP_016882479.1:n.705+1914G>T
NM_030662.4:c.919+96G>T MANE Select	NP_109587.1:n.919+96G>T