Canonical Allele Identifier: CA7285544

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278433A>G , CM000676.2:g.77278433A>G	GRCh38
NC_000014.8:g.77744776A>G , CM000676.1:g.77744776A>G	GRCh37
NC_000014.7:g.76814529A>G	NCBI36
NG_008897.1:g.47450T>C , LRG_844:g.47450T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.2108T>C MANE Select	NP_037514.2:p.Val703Ala
ENST00000261534.9:c.2108T>C MANE Select	ENSP00000261534.4:p.Val703Ala
NM_013382.5:c.2108T>C , LRG_844t1:c.2108T>C	NP_037514.2:p.Val703Ala
NM_013382.6:c.2108T>C	NP_037514.2:p.Val703Ala
ENST00000261534.8:c.2108T>C	ENSP00000261534.4:p.Val703Ala
ENST00000452340.7:n.3084T>C
ENST00000554767.5:n.2894T>C
ENST00000555134.2:n.1033T>C
ENST00000555710.1:c.469T>C	ENSP00000451730.1:n.469T>C
ENST00000556394.1:c.163T>C
ENST00000556394.2:c.1649T>C	ENSP00000451967.2:p.Val550Ala
ENST00000556446.1:n.409T>C
ENST00000602717.5:c.323T>C	ENSP00000487704.1:p.Val108Ala
ENST00000682247.1:c.2097T>C	ENSP00000507213.1:p.Cys699=
ENST00000682395.1:n.2572T>C
ENST00000682459.1:n.1811T>C
ENST00000682467.1:c.1967T>C	ENSP00000508062.1:p.Val656Ala
ENST00000682795.1:c.2255T>C	ENSP00000507574.1:p.Val752Ala
ENST00000682895.1:n.1824T>C
ENST00000682955.1:n.1682T>C
ENST00000683188.1:c.2369T>C
ENST00000683380.1:n.1772T>C
ENST00000683907.1:c.373T>C	ENSP00000507754.1:n.373T>C
ENST00000684259.1:n.3875T>C
ENST00000684538.1:n.1487T>C
ENST00000684549.1:n.1659T>C
XM_011536675.1:c.2297T>C	XP_011534977.1:p.Val766Ala
XM_011536675.2:c.2297T>C	XP_011534977.1:p.Val766Ala
XM_011536676.1:c.1964T>C	XP_011534978.1:p.Val655Ala
XM_011536676.2:c.1964T>C	XP_011534978.1:p.Val655Ala
XM_011536677.1:c.1838T>C	XP_011534979.1:p.Val613Ala
XM_011536677.3:c.1838T>C	XP_011534979.1:p.Val613Ala
XM_011536679.1:c.1391T>C	XP_011534981.1:p.Val464Ala
XR_001750279.1:n.2394T>C
XR_001750282.1:n.3047T>C
XR_943416.1:n.2361T>C
XR_943416.3:n.2359T>C