Canonical Allele Identifier: CA390514080

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745163C>G (hg19) ; chr14:g.77278820C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278820C>G , CM000676.2:g.77278820C>G	GRCh38
NC_000014.8:g.77745163C>G , CM000676.1:g.77745163C>G	GRCh37
NC_000014.7:g.76814916C>G	NCBI36
NG_008897.1:g.47063G>C , LRG_844:g.47063G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.866G>C
ENST00000556394.2:c.1482G>C	ENSP00000451967.2:p.Trp494Cys
ENST00000682128.1:c.242G>C	ENSP00000506976.1:n.242G>C
ENST00000682247.1:c.1930G>C	ENSP00000507213.1:p.Asp644His
ENST00000682395.1:n.2405G>C
ENST00000682459.1:n.1644G>C
ENST00000682467.1:c.1892-312G>C	ENSP00000508062.1:n.1892-312G>C
ENST00000682615.1:n.295G>C
ENST00000682795.1:c.2088G>C	ENSP00000507574.1:p.Trp696Cys
ENST00000682895.1:n.1657G>C
ENST00000682955.1:n.1515G>C
ENST00000683095.1:c.347G>C	ENSP00000508040.1:n.347G>C
ENST00000683188.1:c.2202G>C
ENST00000683380.1:n.1605G>C
ENST00000683828.1:c.1650G>C
ENST00000683907.1:c.206G>C	ENSP00000507754.1:p.Gly69Ala
ENST00000684172.1:c.317G>C	ENSP00000508391.1:n.317G>C
ENST00000684259.1:n.3708G>C
ENST00000684538.1:n.1320G>C
ENST00000684549.1:n.1492G>C
ENST00000261534.9:c.1941G>C MANE Select	ENSP00000261534.4:p.Trp647Cys
ENST00000261534.8:c.1941G>C	ENSP00000261534.4:p.Trp647Cys
ENST00000452340.7:n.2917G>C
ENST00000554767.5:n.2727G>C
ENST00000555134.1:n.866G>C
ENST00000555710.1:c.302G>C	ENSP00000451730.1:n.302G>C
ENST00000556171.1:c.533G>C
ENST00000556394.1:c.88-312G>C
ENST00000556446.1:n.242G>C
ENST00000602717.5:c.156G>C	ENSP00000487704.1:p.Trp52Cys
NM_013382.5:c.1941G>C , LRG_844t1:c.1941G>C	NP_037514.2:p.Trp647Cys
XM_011536675.1:c.2130G>C	XP_011534977.1:p.Trp710Cys
XM_011536676.1:c.1797G>C	XP_011534978.1:p.Trp599Cys
XM_011536677.1:c.1671G>C	XP_011534979.1:p.Trp557Cys
XM_011536679.1:c.1224G>C	XP_011534981.1:p.Trp408Cys
XR_943416.1:n.2194G>C
XM_011536675.2:c.2130G>C	XP_011534977.1:p.Trp710Cys
XM_011536676.2:c.1797G>C	XP_011534978.1:p.Trp599Cys
XM_011536677.3:c.1671G>C	XP_011534979.1:p.Trp557Cys
XR_001750279.1:n.2227G>C
XR_001750282.1:n.2880G>C
XR_943416.3:n.2192G>C
NM_013382.6:c.1941G>C	NP_037514.2:p.Trp647Cys
NM_013382.7:c.1941G>C MANE Select	NP_037514.2:p.Trp647Cys