Canonical Allele Identifier: CA403383135

Gene: MAP2K2

Linked Data

• MyVariant Identifiers: chr19:g.4095390T>G (hg19) ; chr19:g.4095392T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.4095392T>G , CM000681.2:g.4095392T>G	GRCh38
NC_000019.9:g.4095390T>G , CM000681.1:g.4095390T>G	GRCh37
NC_000019.8:g.4046390T>G	NCBI36
NG_007996.1:g.33737A>C , LRG_750:g.33737A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394867.9:n.1481A>C
ENST00000688002.1:n.3193A>C
ENST00000688751.1:n.178A>C
ENST00000689792.1:n.946A>C
ENST00000262948.10:c.1042A>C MANE Select	ENSP00000262948.4:p.Lys348Gln
ENST00000262948.9:c.1042A>C	ENSP00000262948.3:p.Lys348Gln
ENST00000394867.8:c.751A>C	ENSP00000378336.1:p.Lys251Gln
ENST00000595715.1:n.857A>C
ENST00000597263.5:n.227A>C
ENST00000599021.1:c.152A>C
ENST00000600584.5:n.1602A>C
ENST00000601786.5:n.1343A>C
NM_030662.3:c.1042A>C , LRG_750t1:c.1042A>C	NP_109587.1:p.Lys348Gln
XM_006722799.2:c.763A>C	XP_006722862.1:p.Lys255Gln
XM_011528133.1:c.472A>C	XP_011526435.1:p.Lys158Gln
XM_017026989.1:c.1042A>C	XP_016882478.1:p.Lys348Gln
XM_017026990.1:c.763A>C	XP_016882479.1:p.Lys255Gln
NM_030662.4:c.1042A>C MANE Select	NP_109587.1:p.Lys348Gln