Canonical Allele Identifier: CA147594

Gene: MAP2K1

Linked Data

• ClinVar Variation Id: 40738
• ClinVar RCV Id: RCV000080030 ; RCV000860593 ; RCV001813303 ; RCV002433489 ; RCV002513328
• dbSNP Id: rs77796976
• ExAC: 15:66679684 A / G
• gnomAD v2: 15-66679684-A-G
• gnomAD v3: 15-66387346-A-G
• gnomAD v4: 15-66387346-A-G
• MyVariant Identifiers: chr15:g.66679684A>G (hg19) ; chr15:g.66387346A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66387346A>G , CM000677.2:g.66387346A>G	GRCh38
NC_000015.9:g.66679684A>G , CM000677.1:g.66679684A>G	GRCh37
NC_000015.8:g.64466738A>G	NCBI36
NG_008305.1:g.5474A>G , LRG_725:g.5474A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000685172.1:c.-2A>G	ENSP00000509604.1:n.-2A>G
ENST00000685763.1:c.-2A>G	ENSP00000509016.1:n.-2A>G
ENST00000686347.1:c.-2A>G	ENSP00000509027.1:n.-2A>G
ENST00000687191.1:n.435A>G
ENST00000689951.1:c.-2A>G	ENSP00000509308.1:n.-2A>G
ENST00000691077.1:c.-2A>G	ENSP00000509843.1:n.-2A>G
ENST00000691576.1:c.-2A>G	ENSP00000510066.1:n.-2A>G
ENST00000691937.1:c.-2A>G	ENSP00000508768.1:n.-2A>G
ENST00000692487.1:c.-2A>G	ENSP00000509534.1:n.-2A>G
ENST00000307102.10:c.-2A>G MANE Select	ENSP00000302486.5:n.-2A>G
ENST00000307102.9:c.-2A>G	ENSP00000302486.4:n.-2A>G
ENST00000425818.2:n.510A>G
NM_002755.3:c.-2A>G , LRG_725t1:c.-2A>G	NP_002746.1:n.-2A>G
XM_017022411.2:c.-2A>G	XP_016877900.1:n.-2A>G
NM_002755.4:c.-2A>G MANE Select	NP_002746.1:n.-2A>G