Canonical Allele Identifier: CA221729315

Gene: MTCH2

Linked Data

• dbSNP Id: rs910744904
• gnomAD v3: 11-47641426-G-A
• gnomAD v4: 11-47641426-G-A
• MyVariant Identifiers: chr11:g.47662978G>A (hg19) ; chr11:g.47641426G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47641426G>A , CM000673.2:g.47641426G>A	GRCh38
NC_000011.9:g.47662978G>A , CM000673.1:g.47662978G>A	GRCh37
NC_000011.8:g.47619554G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000530428.2:c.87+953C>T	ENSP00000432043.2:n.87+953C>T
ENST00000533571.2:n.134+975C>T
ENST00000302503.8:c.87+953C>T MANE Select	ENSP00000303222.3:n.87+953C>T
ENST00000302503.7:c.87+953C>T	ENSP00000303222.3:n.87+953C>T
ENST00000530428.1:c.87+953C>T	ENSP00000432043.1:n.87+953C>T
ENST00000533571.1:n.195+975C>T
ENST00000539759.5:n.74+953C>T
NM_014342.3:c.87+953C>T	NP_055157.1:n.87+953C>T
XM_006718172.2:c.87+953C>T	XP_006718235.1:n.87+953C>T
XM_011519959.1:c.87+953C>T	XP_011518261.1:n.87+953C>T
XM_011519960.1:c.87+953C>T	XP_011518262.1:n.87+953C>T
XM_011519961.1:c.87+953C>T	XP_011518263.1:n.87+953C>T
XM_011519962.1:c.87+953C>T	XP_011518264.1:n.87+953C>T
XM_011519963.1:c.-295+975C>T	XP_011518265.1:n.-295+975C>T
NM_001317231.1:c.87+953C>T	NP_001304160.1:n.87+953C>T
NM_001317232.1:c.87+953C>T	NP_001304161.1:n.87+953C>T
NM_001317233.1:c.-300+953C>T	NP_001304162.1:n.-300+953C>T
XM_011519959.2:c.87+953C>T	XP_011518261.1:n.87+953C>T
XM_011519960.3:c.87+953C>T	XP_011518262.1:n.87+953C>T
XM_011519961.2:c.87+953C>T	XP_011518263.1:n.87+953C>T
XM_017017462.2:c.87+953C>T	XP_016872951.1:n.87+953C>T
NM_014342.4:c.87+953C>T MANE Select	NP_055157.1:n.87+953C>T
NM_001317231.2:c.87+953C>T	NP_001304160.1:n.87+953C>T
NM_001317232.2:c.87+953C>T	NP_001304161.1:n.87+953C>T
NM_001317233.2:c.-300+953C>T	NP_001304162.1:n.-300+953C>T