Canonical Allele Identifier: CA890808254

Gene: MPC2

Linked Data

• dbSNP Id: rs1356114432
• gnomAD v3: 1-167933802-G-C
• gnomAD v4: 1-167933802-G-C
• MyVariant Identifiers: chr1:g.167903040G>C (hg19) ; chr1:g.167933802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167933802G>C , CM000663.2:g.167933802G>C	GRCh38
NC_000001.10:g.167903040G>C , CM000663.1:g.167903040G>C	GRCh37
NC_000001.9:g.166169664G>C	NCBI36
NG_053062.1:g.2564G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271373.9:c.109+1931C>G MANE Select	ENSP00000271373.4:n.109+1931C>G
ENST00000271373.8:c.109+1931C>G	ENSP00000271373.4:n.109+1931C>G
ENST00000367846.8:c.109+1931C>G	ENSP00000356820.4:n.109+1931C>G
ENST00000458574.1:c.109+1931C>G	ENSP00000392874.1:n.109+1931C>G
NM_001143674.3:c.109+1931C>G	NP_001137146.1:n.109+1931C>G
NM_015415.3:c.109+1931C>G	NP_056230.1:n.109+1931C>G
NR_026550.2:n.469+1931C>G
XM_006711266.2:c.109+1931C>G	XP_006711329.1:n.109+1931C>G
XM_006711266.3:c.109+1931C>G	XP_006711329.1:n.109+1931C>G
NM_001143674.4:c.109+1931C>G MANE Select	NP_001137146.1:n.109+1931C>G
NR_026550.3:n.264+1931C>G