Canonical Allele Identifier: CA392936372

Gene: MAP2K1

Linked Data

• dbSNP Id: rs2140667942
• MyVariant Identifiers: chr15:g.66774170A>C (hg19) ; chr15:g.66481832A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66481832A>C , CM000677.2:g.66481832A>C	GRCh38
NC_000015.9:g.66774170A>C , CM000677.1:g.66774170A>C	GRCh37
NC_000015.8:g.64561224A>C	NCBI36
NG_008305.1:g.99960A>C , LRG_725:g.99960A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684779.1:c.580A>C	ENSP00000508681.1:p.Ile194Leu
ENST00000685172.1:c.646A>C	ENSP00000509604.1:p.Ile216Leu
ENST00000685763.1:c.499A>C	ENSP00000509016.1:p.Ile167Leu
ENST00000686347.1:c.569-5396A>C	ENSP00000509027.1:n.569-5396A>C
ENST00000687191.1:n.1004A>C
ENST00000689951.1:c.697A>C	ENSP00000509308.1:p.Ile233Leu
ENST00000691077.1:c.646A>C	ENSP00000509843.1:p.Ile216Leu
ENST00000691576.1:c.569-3162A>C	ENSP00000510066.1:n.569-3162A>C
ENST00000691937.1:c.646A>C	ENSP00000508768.1:p.Ile216Leu
ENST00000692487.1:c.646A>C	ENSP00000509534.1:p.Ile216Leu
ENST00000692683.1:c.580A>C	ENSP00000508437.1:p.Ile194Leu
ENST00000693150.1:c.502A>C	ENSP00000510309.1:p.Ile168Leu
ENST00000307102.10:c.646A>C MANE Select	ENSP00000302486.5:p.Ile216Leu
ENST00000307102.9:c.646A>C	ENSP00000302486.4:p.Ile216Leu
ENST00000566326.1:c.118A>C	ENSP00000456438.1:p.Ile40Leu
NM_002755.3:c.646A>C , LRG_725t1:c.646A>C	NP_002746.1:p.Ile216Leu
XM_011521783.1:c.580A>C	XP_011520085.1:p.Ile194Leu
XM_011521783.3:c.580A>C	XP_011520085.1:p.Ile194Leu
XM_017022411.2:c.568A>C	XP_016877900.1:p.Ile190Leu
XM_017022412.1:c.502A>C	XP_016877901.1:p.Ile168Leu
XM_017022413.1:c.118A>C	XP_016877902.1:p.Ile40Leu
NM_002755.4:c.646A>C MANE Select	NP_002746.1:p.Ile216Leu