Canonical Allele Identifier: CA392930767

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 1297058
• ClinVar RCV Id: RCV001724794
• dbSNP Id: rs121908596
• MyVariant Identifiers: chr15:g.66729175G>C (hg19) ; chr15:g.66436837G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66436837G>C , CM000677.2:g.66436837G>C	GRCh38
NC_000015.9:g.66729175G>C , CM000677.1:g.66729175G>C	GRCh37
NC_000015.8:g.64516229G>C	NCBI36
NG_008305.1:g.54965G>C , LRG_725:g.54965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.317G>C	ENSP00000508681.1:p.Gly106Ala
ENST00000685172.1:c.383G>C	ENSP00000509604.1:p.Gly128Ala
ENST00000685763.1:c.291+1600G>C	ENSP00000509016.1:n.291+1600G>C
ENST00000686347.1:c.383G>C	ENSP00000509027.1:p.Gly128Ala
ENST00000687191.1:n.819G>C
ENST00000689951.1:c.383G>C	ENSP00000509308.1:p.Gly128Ala
ENST00000691077.1:c.383G>C	ENSP00000509843.1:p.Gly128Ala
ENST00000691576.1:c.383G>C	ENSP00000510066.1:p.Gly128Ala
ENST00000691937.1:c.383G>C	ENSP00000508768.1:p.Gly128Ala
ENST00000692487.1:c.383G>C	ENSP00000509534.1:p.Gly128Ala
ENST00000692683.1:c.317G>C	ENSP00000508437.1:p.Gly106Ala
ENST00000693150.1:c.317G>C	ENSP00000510309.1:p.Gly106Ala
ENST00000307102.10:c.383G>C MANE Select	ENSP00000302486.5:p.Gly128Ala
ENST00000307102.9:c.383G>C	ENSP00000302486.4:p.Gly128Ala
ENST00000425818.2:n.894G>C
NM_002755.3:c.383G>C , LRG_725t1:c.383G>C	NP_002746.1:p.Gly128Ala
XM_011521783.1:c.317G>C	XP_011520085.1:p.Gly106Ala
XM_011521783.3:c.317G>C	XP_011520085.1:p.Gly106Ala
XM_017022411.2:c.383G>C	XP_016877900.1:p.Gly128Ala
XM_017022412.1:c.317G>C	XP_016877901.1:p.Gly106Ala
NM_002755.4:c.383G>C MANE Select	NP_002746.1:p.Gly128Ala