Canonical Allele Identifier: CA392936969

Gene: MAP2K1

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66485025G>C , CM000677.2:g.66485025G>C	GRCh38
NC_000015.9:g.66777363G>C , CM000677.1:g.66777363G>C	GRCh37
NC_000015.8:g.64564417G>C	NCBI36
NG_008305.1:g.103153G>C , LRG_725:g.103153G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.628-2203G>C	ENSP00000508681.1:n.628-2203G>C
ENST00000685172.1:c.729G>C	ENSP00000509604.1:p.Gln243His
ENST00000685763.1:c.582G>C	ENSP00000509016.1:p.Gln194His
ENST00000686347.1:c.569-2203G>C	ENSP00000509027.1:n.569-2203G>C
ENST00000687191.1:n.1087G>C
ENST00000687481.1:n.144G>C
ENST00000689951.1:c.780G>C	ENSP00000509308.1:p.Gln260His
ENST00000691077.1:c.725G>C	ENSP00000509843.1:p.Ser242Thr
ENST00000691576.1:c.600G>C	ENSP00000510066.1:p.Gln200His
ENST00000691937.1:c.729G>C	ENSP00000508768.1:p.Gln243His
ENST00000692487.1:c.725G>C	ENSP00000509534.1:p.Ser242Thr
ENST00000692683.1:c.663G>C	ENSP00000508437.1:p.Gln221His
ENST00000693150.1:c.585G>C	ENSP00000510309.1:p.Gln195His
ENST00000307102.10:c.729G>C MANE Select	ENSP00000302486.5:p.Gln243His
ENST00000307102.9:c.729G>C	ENSP00000302486.4:p.Gln243His
ENST00000566326.1:c.201G>C	ENSP00000456438.1:p.Gln67His
NM_002755.3:c.729G>C , LRG_725t1:c.729G>C	NP_002746.1:p.Gln243His
XM_011521783.1:c.663G>C	XP_011520085.1:p.Gln221His
XM_011521783.3:c.663G>C	XP_011520085.1:p.Gln221His
XM_017022411.2:c.651G>C	XP_016877900.1:p.Gln217His
XM_017022412.1:c.585G>C	XP_016877901.1:p.Gln195His
XM_017022413.1:c.201G>C	XP_016877902.1:p.Gln67His
NM_002755.4:c.729G>C MANE Select	NP_002746.1:p.Gln243His