Canonical Allele Identifier: CA392937558

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 503540
• ClinVar RCV Id: RCV000591643 ; RCV003767412
• dbSNP Id: rs1361965478
• gnomAD v3: 15-66487271-G-C
• gnomAD v4: 15-66487271-G-C
• MyVariant Identifiers: chr15:g.66779609G>C (hg19) ; chr15:g.66487271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66487271G>C , CM000677.2:g.66487271G>C	GRCh38
NC_000015.9:g.66779609G>C , CM000677.1:g.66779609G>C	GRCh37
NC_000015.8:g.64566663G>C	NCBI36
NG_008305.1:g.105399G>C , LRG_725:g.105399G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.671G>C	ENSP00000508681.1:p.Cys224Ser
ENST00000685172.1:c.939G>C	ENSP00000509604.1:p.Leu313Phe
ENST00000685763.1:c.792G>C	ENSP00000509016.1:p.Leu264Phe
ENST00000686347.1:c.612G>C	ENSP00000509027.1:p.Leu204Phe
ENST00000687191.1:n.1297G>C
ENST00000687481.1:n.354G>C
ENST00000688689.1:n.694G>C
ENST00000689951.1:c.990G>C	ENSP00000509308.1:p.Leu330Phe
ENST00000691077.1:c.*176G>C	ENSP00000509843.1:n.*176G>C
ENST00000691576.1:c.810G>C	ENSP00000510066.1:p.Leu270Phe
ENST00000691937.1:c.896-1944G>C	ENSP00000508768.1:n.896-1944G>C
ENST00000692487.1:c.*176G>C	ENSP00000509534.1:n.*176G>C
ENST00000692683.1:c.873G>C	ENSP00000508437.1:p.Leu291Phe
ENST00000693150.1:c.795G>C	ENSP00000510309.1:p.Leu265Phe
ENST00000307102.10:c.939G>C MANE Select	ENSP00000302486.5:p.Leu313Phe
ENST00000307102.9:c.939G>C	ENSP00000302486.4:p.Leu313Phe
ENST00000566326.1:c.411G>C	ENSP00000456438.1:p.Leu137Phe
NM_002755.3:c.939G>C , LRG_725t1:c.939G>C	NP_002746.1:p.Leu313Phe
XM_011521783.1:c.873G>C	XP_011520085.1:p.Leu291Phe
XM_011521783.3:c.873G>C	XP_011520085.1:p.Leu291Phe
XM_017022411.2:c.861G>C	XP_016877900.1:p.Leu287Phe
XM_017022412.1:c.795G>C	XP_016877901.1:p.Leu265Phe
XM_017022413.1:c.411G>C	XP_016877902.1:p.Leu137Phe
NM_002755.4:c.939G>C MANE Select	NP_002746.1:p.Leu313Phe