Canonical Allele Identifier: CA526685380

Gene: MPC2

Linked Data

• dbSNP Id: rs1298716012
• gnomAD v2: 1-167903064-A-G
• gnomAD v3: 1-167933826-A-G
• gnomAD v4: 1-167933826-A-G
• MyVariant Identifiers: chr1:g.167903064A>G (hg19) ; chr1:g.167933826A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167933826A>G , CM000663.2:g.167933826A>G	GRCh38
NC_000001.10:g.167903064A>G , CM000663.1:g.167903064A>G	GRCh37
NC_000001.9:g.166169688A>G	NCBI36
NG_053062.1:g.2588A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271373.9:c.109+1907T>C MANE Select	ENSP00000271373.4:n.109+1907T>C
ENST00000271373.8:c.109+1907T>C	ENSP00000271373.4:n.109+1907T>C
ENST00000367846.8:c.109+1907T>C	ENSP00000356820.4:n.109+1907T>C
ENST00000458574.1:c.109+1907T>C	ENSP00000392874.1:n.109+1907T>C
NM_001143674.3:c.109+1907T>C	NP_001137146.1:n.109+1907T>C
NM_015415.3:c.109+1907T>C	NP_056230.1:n.109+1907T>C
NR_026550.2:n.469+1907T>C
XM_006711266.2:c.109+1907T>C	XP_006711329.1:n.109+1907T>C
XM_006711266.3:c.109+1907T>C	XP_006711329.1:n.109+1907T>C
NM_001143674.4:c.109+1907T>C MANE Select	NP_001137146.1:n.109+1907T>C
NR_026550.3:n.264+1907T>C