Canonical Allele Identifier: CA390514248

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745203T>G (hg19) ; chr14:g.77278860T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278860T>G , CM000676.2:g.77278860T>G	GRCh38
NC_000014.8:g.77745203T>G , CM000676.1:g.77745203T>G	GRCh37
NC_000014.7:g.76814956T>G	NCBI36
NG_008897.1:g.47023A>C , LRG_844:g.47023A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.826A>C
ENST00000556394.2:c.1442A>C	ENSP00000451967.2:p.Gln481Pro
ENST00000682128.1:c.202A>C	ENSP00000506976.1:n.202A>C
ENST00000682247.1:c.1892-2A>C	ENSP00000507213.1:n.1892-2A>C
ENST00000682395.1:n.2365A>C
ENST00000682459.1:n.1604A>C
ENST00000682467.1:c.1892-352A>C	ENSP00000508062.1:n.1892-352A>C
ENST00000682615.1:n.255A>C
ENST00000682795.1:c.2048A>C	ENSP00000507574.1:p.Gln683Pro
ENST00000682895.1:n.1617A>C
ENST00000682955.1:n.1475A>C
ENST00000683095.1:c.307A>C	ENSP00000508040.1:n.307A>C
ENST00000683188.1:c.2162A>C
ENST00000683380.1:n.1565A>C
ENST00000683828.1:c.1610A>C
ENST00000683907.1:c.166A>C	ENSP00000507754.1:p.Arg56=
ENST00000684172.1:c.277A>C	ENSP00000508391.1:n.277A>C
ENST00000684259.1:n.3668A>C
ENST00000684538.1:n.1280A>C
ENST00000684549.1:n.1452A>C
ENST00000261534.9:c.1901A>C MANE Select	ENSP00000261534.4:p.Gln634Pro
ENST00000261534.8:c.1901A>C	ENSP00000261534.4:p.Gln634Pro
ENST00000452340.7:n.2877A>C
ENST00000554767.5:n.2687A>C
ENST00000555134.1:n.826A>C
ENST00000555710.1:c.262A>C	ENSP00000451730.1:n.262A>C
ENST00000556171.1:c.493A>C
ENST00000556394.1:c.88-352A>C
ENST00000556446.1:n.202A>C
ENST00000602717.5:c.116A>C	ENSP00000487704.1:p.Gln39Pro
NM_013382.5:c.1901A>C , LRG_844t1:c.1901A>C	NP_037514.2:p.Gln634Pro
XM_011536675.1:c.2090A>C	XP_011534977.1:p.Gln697Pro
XM_011536676.1:c.1757A>C	XP_011534978.1:p.Gln586Pro
XM_011536677.1:c.1631A>C	XP_011534979.1:p.Gln544Pro
XM_011536679.1:c.1184A>C	XP_011534981.1:p.Gln395Pro
XR_943416.1:n.2154A>C
XM_011536675.2:c.2090A>C	XP_011534977.1:p.Gln697Pro
XM_011536676.2:c.1757A>C	XP_011534978.1:p.Gln586Pro
XM_011536677.3:c.1631A>C	XP_011534979.1:p.Gln544Pro
XR_001750279.1:n.2187A>C
XR_001750282.1:n.2840A>C
XR_943416.3:n.2152A>C
NM_013382.6:c.1901A>C	NP_037514.2:p.Gln634Pro
NM_013382.7:c.1901A>C MANE Select	NP_037514.2:p.Gln634Pro