Canonical Allele Identifier: CA403386812

Gene: MAP2K2

Linked Data

• dbSNP Id: rs2145050381
• MyVariant Identifiers: chr19:g.4099372T>G (hg19) ; chr19:g.4099374T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4099374T>G , CM000681.2:g.4099374T>G	GRCh38
NC_000019.9:g.4099372T>G , CM000681.1:g.4099372T>G	GRCh37
NC_000019.8:g.4050372T>G	NCBI36
NG_007996.1:g.29755A>C , LRG_750:g.29755A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1185A>C
ENST00000687128.1:n.1185A>C
ENST00000688002.1:n.1040A>C
ENST00000689792.1:n.650A>C
ENST00000262948.10:c.746A>C MANE Select	ENSP00000262948.4:p.Asp249Ala
ENST00000262948.9:c.746A>C	ENSP00000262948.3:p.Asp249Ala
ENST00000394867.8:c.455A>C	ENSP00000378336.1:p.Asp152Ala
ENST00000593364.5:n.693A>C
ENST00000595715.1:n.561A>C
ENST00000597263.5:n.169+1645A>C
ENST00000599021.1:c.29+1645A>C
ENST00000600584.5:n.1306A>C
ENST00000601786.5:n.1047A>C
NM_030662.3:c.746A>C , LRG_750t1:c.746A>C	NP_109587.1:p.Asp249Ala
XM_006722799.2:c.705+1645A>C	XP_006722862.1:n.705+1645A>C
XM_011528133.1:c.176A>C	XP_011526435.1:p.Asp59Ala
XM_017026989.1:c.746A>C	XP_016882478.1:p.Asp249Ala
XM_017026990.1:c.705+1645A>C	XP_016882479.1:n.705+1645A>C
NM_030662.4:c.746A>C MANE Select	NP_109587.1:p.Asp249Ala