Canonical Allele Identifier: CA390514197

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745191C>A (hg19) ; chr14:g.77278848C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278848C>A , CM000676.2:g.77278848C>A	GRCh38
NC_000014.8:g.77745191C>A , CM000676.1:g.77745191C>A	GRCh37
NC_000014.7:g.76814944C>A	NCBI36
NG_008897.1:g.47035G>T , LRG_844:g.47035G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.838G>T
ENST00000556394.2:c.1454G>T	ENSP00000451967.2:p.Arg485Leu
ENST00000682128.1:c.214G>T	ENSP00000506976.1:n.214G>T
ENST00000682247.1:c.1902G>T	ENSP00000507213.1:p.Ser634=
ENST00000682395.1:n.2377G>T
ENST00000682459.1:n.1616G>T
ENST00000682467.1:c.1892-340G>T	ENSP00000508062.1:n.1892-340G>T
ENST00000682615.1:n.267G>T
ENST00000682795.1:c.2060G>T	ENSP00000507574.1:p.Arg687Leu
ENST00000682895.1:n.1629G>T
ENST00000682955.1:n.1487G>T
ENST00000683095.1:c.319G>T	ENSP00000508040.1:n.319G>T
ENST00000683188.1:c.2174G>T
ENST00000683380.1:n.1577G>T
ENST00000683828.1:c.1622G>T
ENST00000683907.1:c.178G>T	ENSP00000507754.1:p.Glu60Ter
ENST00000684172.1:c.289G>T	ENSP00000508391.1:n.289G>T
ENST00000684259.1:n.3680G>T
ENST00000684538.1:n.1292G>T
ENST00000684549.1:n.1464G>T
ENST00000261534.9:c.1913G>T MANE Select	ENSP00000261534.4:p.Arg638Leu
ENST00000261534.8:c.1913G>T	ENSP00000261534.4:p.Arg638Leu
ENST00000452340.7:n.2889G>T
ENST00000554767.5:n.2699G>T
ENST00000555134.1:n.838G>T
ENST00000555710.1:c.274G>T	ENSP00000451730.1:n.274G>T
ENST00000556171.1:c.505G>T
ENST00000556394.1:c.88-340G>T
ENST00000556446.1:n.214G>T
ENST00000602717.5:c.128G>T	ENSP00000487704.1:p.Arg43Leu
NM_013382.5:c.1913G>T , LRG_844t1:c.1913G>T	NP_037514.2:p.Arg638Leu
XM_011536675.1:c.2102G>T	XP_011534977.1:p.Arg701Leu
XM_011536676.1:c.1769G>T	XP_011534978.1:p.Arg590Leu
XM_011536677.1:c.1643G>T	XP_011534979.1:p.Arg548Leu
XM_011536679.1:c.1196G>T	XP_011534981.1:p.Arg399Leu
XR_943416.1:n.2166G>T
XM_011536675.2:c.2102G>T	XP_011534977.1:p.Arg701Leu
XM_011536676.2:c.1769G>T	XP_011534978.1:p.Arg590Leu
XM_011536677.3:c.1643G>T	XP_011534979.1:p.Arg548Leu
XR_001750279.1:n.2199G>T
XR_001750282.1:n.2852G>T
XR_943416.3:n.2164G>T
NM_013382.6:c.1913G>T	NP_037514.2:p.Arg638Leu
NM_013382.7:c.1913G>T MANE Select	NP_037514.2:p.Arg638Leu