Canonical Allele Identifier: CA390514193

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745189C>G (hg19) ; chr14:g.77278846C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278846C>G , CM000676.2:g.77278846C>G	GRCh38
NC_000014.8:g.77745189C>G , CM000676.1:g.77745189C>G	GRCh37
NC_000014.7:g.76814942C>G	NCBI36
NG_008897.1:g.47037G>C , LRG_844:g.47037G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.840G>C
ENST00000556394.2:c.1456G>C	ENSP00000451967.2:p.Gly486Arg
ENST00000682128.1:c.216G>C	ENSP00000506976.1:n.216G>C
ENST00000682247.1:c.1904G>C	ENSP00000507213.1:p.Arg635Thr
ENST00000682395.1:n.2379G>C
ENST00000682459.1:n.1618G>C
ENST00000682467.1:c.1892-338G>C	ENSP00000508062.1:n.1892-338G>C
ENST00000682615.1:n.269G>C
ENST00000682795.1:c.2062G>C	ENSP00000507574.1:p.Gly688Arg
ENST00000682895.1:n.1631G>C
ENST00000682955.1:n.1489G>C
ENST00000683095.1:c.321G>C	ENSP00000508040.1:n.321G>C
ENST00000683188.1:c.2176G>C
ENST00000683380.1:n.1579G>C
ENST00000683828.1:c.1624G>C
ENST00000683907.1:c.180G>C	ENSP00000507754.1:p.Glu60Asp
ENST00000684172.1:c.291G>C	ENSP00000508391.1:n.291G>C
ENST00000684259.1:n.3682G>C
ENST00000684538.1:n.1294G>C
ENST00000684549.1:n.1466G>C
ENST00000261534.9:c.1915G>C MANE Select	ENSP00000261534.4:p.Gly639Arg
ENST00000261534.8:c.1915G>C	ENSP00000261534.4:p.Gly639Arg
ENST00000452340.7:n.2891G>C
ENST00000554767.5:n.2701G>C
ENST00000555134.1:n.840G>C
ENST00000555710.1:c.276G>C	ENSP00000451730.1:n.276G>C
ENST00000556171.1:c.507G>C
ENST00000556394.1:c.88-338G>C
ENST00000556446.1:n.216G>C
ENST00000602717.5:c.130G>C	ENSP00000487704.1:p.Gly44Arg
NM_013382.5:c.1915G>C , LRG_844t1:c.1915G>C	NP_037514.2:p.Gly639Arg
XM_011536675.1:c.2104G>C	XP_011534977.1:p.Gly702Arg
XM_011536676.1:c.1771G>C	XP_011534978.1:p.Gly591Arg
XM_011536677.1:c.1645G>C	XP_011534979.1:p.Gly549Arg
XM_011536679.1:c.1198G>C	XP_011534981.1:p.Gly400Arg
XR_943416.1:n.2168G>C
XM_011536675.2:c.2104G>C	XP_011534977.1:p.Gly702Arg
XM_011536676.2:c.1771G>C	XP_011534978.1:p.Gly591Arg
XM_011536677.3:c.1645G>C	XP_011534979.1:p.Gly549Arg
XR_001750279.1:n.2201G>C
XR_001750282.1:n.2854G>C
XR_943416.3:n.2166G>C
NM_013382.6:c.1915G>C	NP_037514.2:p.Gly639Arg
NM_013382.7:c.1915G>C MANE Select	NP_037514.2:p.Gly639Arg