Canonical Allele Identifier: CA390513557

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744813C>G (hg19) ; chr14:g.77278470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278470C>G , CM000676.2:g.77278470C>G	GRCh38
NC_000014.8:g.77744813C>G , CM000676.1:g.77744813C>G	GRCh37
NC_000014.7:g.76814566C>G	NCBI36
NG_008897.1:g.47413G>C , LRG_844:g.47413G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.996G>C
ENST00000556394.2:c.1612G>C	ENSP00000451967.2:p.Gly538Arg
ENST00000682247.1:c.2060G>C	ENSP00000507213.1:p.Gly687Ala
ENST00000682395.1:n.2535G>C
ENST00000682459.1:n.1774G>C
ENST00000682467.1:c.1930G>C	ENSP00000508062.1:p.Gly644Arg
ENST00000682795.1:c.2218G>C	ENSP00000507574.1:p.Gly740Arg
ENST00000682895.1:n.1787G>C
ENST00000682955.1:n.1645G>C
ENST00000683188.1:c.2332G>C
ENST00000683380.1:n.1735G>C
ENST00000683907.1:c.336G>C	ENSP00000507754.1:n.336G>C
ENST00000684259.1:n.3838G>C
ENST00000684538.1:n.1450G>C
ENST00000684549.1:n.1622G>C
ENST00000261534.9:c.2071G>C MANE Select	ENSP00000261534.4:p.Gly691Arg
ENST00000261534.8:c.2071G>C	ENSP00000261534.4:p.Gly691Arg
ENST00000452340.7:n.3047G>C
ENST00000554767.5:n.2857G>C
ENST00000555710.1:c.432G>C	ENSP00000451730.1:n.432G>C
ENST00000556394.1:c.126G>C
ENST00000556446.1:n.372G>C
ENST00000602717.5:c.286G>C	ENSP00000487704.1:p.Gly96Arg
NM_013382.5:c.2071G>C , LRG_844t1:c.2071G>C	NP_037514.2:p.Gly691Arg
XM_011536675.1:c.2260G>C	XP_011534977.1:p.Gly754Arg
XM_011536676.1:c.1927G>C	XP_011534978.1:p.Gly643Arg
XM_011536677.1:c.1801G>C	XP_011534979.1:p.Gly601Arg
XM_011536679.1:c.1354G>C	XP_011534981.1:p.Gly452Arg
XR_943416.1:n.2324G>C
XM_011536675.2:c.2260G>C	XP_011534977.1:p.Gly754Arg
XM_011536676.2:c.1927G>C	XP_011534978.1:p.Gly643Arg
XM_011536677.3:c.1801G>C	XP_011534979.1:p.Gly601Arg
XR_001750279.1:n.2357G>C
XR_001750282.1:n.3010G>C
XR_943416.3:n.2322G>C
NM_013382.6:c.2071G>C	NP_037514.2:p.Gly691Arg
NM_013382.7:c.2071G>C MANE Select	NP_037514.2:p.Gly691Arg