Canonical Allele Identifier: CA403385123

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2145049489
• gnomAD v4: 19-4099204-T-A
• MyVariant Identifiers: chr19:g.4099202T>A (hg19) ; chr19:g.4099204T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099204T>A , CM000681.2:g.4099204T>A	GRCh38
NC_000019.9:g.4099202T>A , CM000681.1:g.4099202T>A	GRCh37
NC_000019.8:g.4050202T>A	NCBI36
NG_007996.1:g.29925A>T , LRG_750:g.29925A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000394867.9:n.1355A>T
ENST00000687128.1:n.1355A>T
ENST00000688002.1:n.1210A>T
ENST00000689792.1:n.820A>T
ENST00000262948.10:c.916A>T MANE Select	ENSP00000262948.4:p.Ser306Cys
ENST00000262948.9:c.916A>T	ENSP00000262948.3:p.Ser306Cys
ENST00000394867.8:c.625A>T	ENSP00000378336.1:p.Ser209Cys
ENST00000593364.5:n.863A>T
ENST00000595715.1:n.731A>T
ENST00000597263.5:n.169+1815A>T
ENST00000599021.1:c.29+1815A>T
ENST00000600584.5:n.1476A>T
ENST00000601786.5:n.1217A>T
NM_030662.3:c.916A>T , LRG_750t1:c.916A>T	NP_109587.1:p.Ser306Cys
XM_006722799.2:c.705+1815A>T	XP_006722862.1:n.705+1815A>T
XM_011528133.1:c.346A>T	XP_011526435.1:p.Ser116Cys
XM_017026989.1:c.916A>T	XP_016882478.1:p.Ser306Cys
XM_017026990.1:c.705+1815A>T	XP_016882479.1:n.705+1815A>T
NM_030662.4:c.916A>T MANE Select	NP_109587.1:p.Ser306Cys