Canonical Allele Identifier: CA403380627

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4090604C>G (hg19) ; chr19:g.4090606C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4090606C>G , CM000681.2:g.4090606C>G	GRCh38
NC_000019.9:g.4090604C>G , CM000681.1:g.4090604C>G	GRCh37
NC_000019.8:g.4041604C>G	NCBI36
NG_007996.1:g.38523G>C , LRG_750:g.38523G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1634G>C
ENST00000688002.1:n.3346G>C
ENST00000688751.1:n.331G>C
ENST00000689792.1:n.1099G>C
ENST00000262948.10:c.1195G>C MANE Select	ENSP00000262948.4:p.Ala399Pro
ENST00000262948.9:c.1195G>C	ENSP00000262948.3:p.Ala399Pro
ENST00000394867.8:c.904G>C	ENSP00000378336.1:p.Ala302Pro
ENST00000597263.5:n.380G>C
ENST00000599021.1:c.305G>C
ENST00000600584.5:n.2644G>C
ENST00000601786.5:n.1496G>C
NM_030662.3:c.1195G>C , LRG_750t1:c.1195G>C	NP_109587.1:p.Ala399Pro
XM_006722799.2:c.916G>C	XP_006722862.1:p.Ala306Pro
XM_011528133.1:c.625G>C	XP_011526435.1:p.Ala209Pro
NM_030662.4:c.1195G>C MANE Select	NP_109587.1:p.Ala399Pro