Canonical Allele Identifier: CA148156021

Gene: MTFR2

Linked Data

• dbSNP Id: rs9483919
• gnomAD v2: 6-136558101-C-T
• gnomAD v3: 6-136236963-C-T
• gnomAD v4: 6-136236963-C-T
• MyVariant Identifiers: chr6:g.136558101C>T (hg19) ; chr6:g.136236963C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136236963C>T , CM000668.2:g.136236963C>T	GRCh38
NC_000006.11:g.136558101C>T , CM000668.1:g.136558101C>T	GRCh37
NC_000006.10:g.136599794C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420702.6:c.869+2503G>A MANE Select	ENSP00000395232.1:n.869+2503G>A
ENST00000367784.6:c.*834+2503G>A	ENSP00000356758.2:n.*834+2503G>A
ENST00000420702.5:c.869+2503G>A	ENSP00000395232.1:n.869+2503G>A
ENST00000451457.6:c.869+2503G>A	ENSP00000407010.2:n.869+2503G>A
ENST00000532958.1:c.81+2503G>A
NM_001099286.1:c.869+2503G>A	NP_001092756.1:n.869+2503G>A
NM_138419.3:c.869+2503G>A	NP_612428.2:n.869+2503G>A
XM_011535410.1:c.740+2503G>A	XP_011533712.1:n.740+2503G>A
XM_011535411.1:c.740+2503G>A	XP_011533713.1:n.740+2503G>A
XM_011535412.1:c.740+2503G>A	XP_011533714.1:n.740+2503G>A
XM_011535413.1:c.740+2503G>A	XP_011533715.1:n.740+2503G>A
NM_001099286.2:c.869+2503G>A	NP_001092756.1:n.869+2503G>A
NM_001318738.1:c.740+2503G>A	NP_001305667.1:n.740+2503G>A
NM_138419.4:c.869+2503G>A	NP_612428.2:n.869+2503G>A
XM_011535410.2:c.740+2503G>A	XP_011533712.1:n.740+2503G>A
XM_011535412.2:c.740+2503G>A	XP_011533714.1:n.740+2503G>A
XM_011535413.2:c.740+2503G>A	XP_011533715.1:n.740+2503G>A
NM_001099286.3:c.869+2503G>A MANE Select	NP_001092756.1:n.869+2503G>A
NM_001318738.2:c.740+2503G>A	NP_001305667.1:n.740+2503G>A
NM_138419.5:c.869+2503G>A	NP_612428.2:n.869+2503G>A