Canonical Allele Identifier: CA992819351

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2040899918
• gnomAD v3: 19-4095213-G-A
• gnomAD v4: 19-4095213-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095213G>A , CM000681.2:g.4095213G>A	GRCh38
NC_000019.9:g.4095211G>A , CM000681.1:g.4095211G>A	GRCh37
NC_000019.8:g.4046211G>A	NCBI36
NG_007996.1:g.33916C>T , LRG_750:g.33916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1485+175C>T
ENST00000688002.1:n.3197+175C>T
ENST00000688751.1:n.182+175C>T
ENST00000689792.1:n.950+175C>T
ENST00000262948.10:c.1046+175C>T MANE Select	ENSP00000262948.4:n.1046+175C>T
ENST00000262948.9:c.1046+175C>T	ENSP00000262948.3:n.1046+175C>T
ENST00000394867.8:c.755+175C>T	ENSP00000378336.1:n.755+175C>T
ENST00000597263.5:n.231+175C>T
ENST00000599021.1:c.156+175C>T
ENST00000600584.5:n.1781C>T
ENST00000601786.5:n.1347+175C>T
NM_030662.3:c.1046+175C>T , LRG_750t1:c.1046+175C>T	NP_109587.1:n.1046+175C>T
XM_006722799.2:c.767+175C>T	XP_006722862.1:n.767+175C>T
XM_011528133.1:c.476+175C>T	XP_011526435.1:n.476+175C>T
XM_017026989.1:c.1047-167C>T	XP_016882478.1:n.1047-167C>T
XM_017026990.1:c.768-167C>T	XP_016882479.1:n.768-167C>T
NM_030662.4:c.1046+175C>T MANE Select	NP_109587.1:n.1046+175C>T