Canonical Allele Identifier: CA390514110

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278825-C-G
• MyVariant Identifiers: chr14:g.77745168C>G (hg19) ; chr14:g.77278825C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278825C>G , CM000676.2:g.77278825C>G	GRCh38
NC_000014.8:g.77745168C>G , CM000676.1:g.77745168C>G	GRCh37
NC_000014.7:g.76814921C>G	NCBI36
NG_008897.1:g.47058G>C , LRG_844:g.47058G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.861G>C
ENST00000556394.2:c.1477G>C	ENSP00000451967.2:p.Gly493Arg
ENST00000682128.1:c.237G>C	ENSP00000506976.1:n.237G>C
ENST00000682247.1:c.1925G>C	ENSP00000507213.1:p.Arg642Pro
ENST00000682395.1:n.2400G>C
ENST00000682459.1:n.1639G>C
ENST00000682467.1:c.1892-317G>C	ENSP00000508062.1:n.1892-317G>C
ENST00000682615.1:n.290G>C
ENST00000682795.1:c.2083G>C	ENSP00000507574.1:p.Gly695Arg
ENST00000682895.1:n.1652G>C
ENST00000682955.1:n.1510G>C
ENST00000683095.1:c.342G>C	ENSP00000508040.1:n.342G>C
ENST00000683188.1:c.2197G>C
ENST00000683380.1:n.1600G>C
ENST00000683828.1:c.1645G>C
ENST00000683907.1:c.201G>C	ENSP00000507754.1:p.Ser67=
ENST00000684172.1:c.312G>C	ENSP00000508391.1:n.312G>C
ENST00000684259.1:n.3703G>C
ENST00000684538.1:n.1315G>C
ENST00000684549.1:n.1487G>C
ENST00000261534.9:c.1936G>C MANE Select	ENSP00000261534.4:p.Gly646Arg
ENST00000261534.8:c.1936G>C	ENSP00000261534.4:p.Gly646Arg
ENST00000452340.7:n.2912G>C
ENST00000554767.5:n.2722G>C
ENST00000555134.1:n.861G>C
ENST00000555710.1:c.297G>C	ENSP00000451730.1:n.297G>C
ENST00000556171.1:c.528G>C
ENST00000556394.1:c.88-317G>C
ENST00000556446.1:n.237G>C
ENST00000602717.5:c.151G>C	ENSP00000487704.1:p.Gly51Arg
NM_013382.5:c.1936G>C , LRG_844t1:c.1936G>C	NP_037514.2:p.Gly646Arg
XM_011536675.1:c.2125G>C	XP_011534977.1:p.Gly709Arg
XM_011536676.1:c.1792G>C	XP_011534978.1:p.Gly598Arg
XM_011536677.1:c.1666G>C	XP_011534979.1:p.Gly556Arg
XM_011536679.1:c.1219G>C	XP_011534981.1:p.Gly407Arg
XR_943416.1:n.2189G>C
XM_011536675.2:c.2125G>C	XP_011534977.1:p.Gly709Arg
XM_011536676.2:c.1792G>C	XP_011534978.1:p.Gly598Arg
XM_011536677.3:c.1666G>C	XP_011534979.1:p.Gly556Arg
XR_001750279.1:n.2222G>C
XR_001750282.1:n.2875G>C
XR_943416.3:n.2187G>C
NM_013382.6:c.1936G>C	NP_037514.2:p.Gly646Arg
NM_013382.7:c.1936G>C MANE Select	NP_037514.2:p.Gly646Arg