Canonical Allele Identifier: CA390513675

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744842C>G (hg19) ; chr14:g.77278499C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278499C>G , CM000676.2:g.77278499C>G	GRCh38
NC_000014.8:g.77744842C>G , CM000676.1:g.77744842C>G	GRCh37
NC_000014.7:g.76814595C>G	NCBI36
NG_008897.1:g.47384G>C , LRG_844:g.47384G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.967G>C
ENST00000556394.2:c.1583G>C	ENSP00000451967.2:p.Trp528Ser
ENST00000682247.1:c.2031G>C	ENSP00000507213.1:p.Val677=
ENST00000682395.1:n.2506G>C
ENST00000682459.1:n.1745G>C
ENST00000682467.1:c.1901G>C	ENSP00000508062.1:p.Trp634Ser
ENST00000682795.1:c.2189G>C	ENSP00000507574.1:p.Trp730Ser
ENST00000682895.1:n.1758G>C
ENST00000682955.1:n.1616G>C
ENST00000683188.1:c.2303G>C
ENST00000683380.1:n.1706G>C
ENST00000683907.1:c.307G>C	ENSP00000507754.1:n.307G>C
ENST00000684259.1:n.3809G>C
ENST00000684538.1:n.1421G>C
ENST00000684549.1:n.1593G>C
ENST00000261534.9:c.2042G>C MANE Select	ENSP00000261534.4:p.Trp681Ser
ENST00000261534.8:c.2042G>C	ENSP00000261534.4:p.Trp681Ser
ENST00000452340.7:n.3018G>C
ENST00000554767.5:n.2828G>C
ENST00000555710.1:c.403G>C	ENSP00000451730.1:n.403G>C
ENST00000556394.1:c.97G>C
ENST00000556446.1:n.343G>C
ENST00000602717.5:c.257G>C	ENSP00000487704.1:p.Trp86Ser
NM_013382.5:c.2042G>C , LRG_844t1:c.2042G>C	NP_037514.2:p.Trp681Ser
XM_011536675.1:c.2231G>C	XP_011534977.1:p.Trp744Ser
XM_011536676.1:c.1898G>C	XP_011534978.1:p.Trp633Ser
XM_011536677.1:c.1772G>C	XP_011534979.1:p.Trp591Ser
XM_011536679.1:c.1325G>C	XP_011534981.1:p.Trp442Ser
XR_943416.1:n.2295G>C
XM_011536675.2:c.2231G>C	XP_011534977.1:p.Trp744Ser
XM_011536676.2:c.1898G>C	XP_011534978.1:p.Trp633Ser
XM_011536677.3:c.1772G>C	XP_011534979.1:p.Trp591Ser
XR_001750279.1:n.2328G>C
XR_001750282.1:n.2981G>C
XR_943416.3:n.2293G>C
NM_013382.6:c.2042G>C	NP_037514.2:p.Trp681Ser
NM_013382.7:c.2042G>C MANE Select	NP_037514.2:p.Trp681Ser