Canonical Allele Identifier: CA31413202

Gene: MPC2

Linked Data

• dbSNP Id: rs1047934843
• gnomAD v3: 1-167933799-G-A
• gnomAD v4: 1-167933799-G-A
• MyVariant Identifiers: chr1:g.167903037G>A (hg19) ; chr1:g.167933799G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.167933799G>A , CM000663.2:g.167933799G>A	GRCh38
NC_000001.10:g.167903037G>A , CM000663.1:g.167903037G>A	GRCh37
NC_000001.9:g.166169661G>A	NCBI36
NG_053062.1:g.2561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271373.9:c.109+1934C>T MANE Select	ENSP00000271373.4:n.109+1934C>T
ENST00000271373.8:c.109+1934C>T	ENSP00000271373.4:n.109+1934C>T
ENST00000367846.8:c.109+1934C>T	ENSP00000356820.4:n.109+1934C>T
ENST00000458574.1:c.109+1934C>T	ENSP00000392874.1:n.109+1934C>T
NM_001143674.3:c.109+1934C>T	NP_001137146.1:n.109+1934C>T
NM_015415.3:c.109+1934C>T	NP_056230.1:n.109+1934C>T
NR_026550.2:n.469+1934C>T
XM_006711266.2:c.109+1934C>T	XP_006711329.1:n.109+1934C>T
XM_006711266.3:c.109+1934C>T	XP_006711329.1:n.109+1934C>T
NM_001143674.4:c.109+1934C>T MANE Select	NP_001137146.1:n.109+1934C>T
NR_026550.3:n.264+1934C>T