Canonical Allele Identifier: CA390517666

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753105C>A (hg19) ; chr14:g.77286762C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286762C>A , CM000676.2:g.77286762C>A	GRCh38
NC_000014.8:g.77753105C>A , CM000676.1:g.77753105C>A	GRCh37
NC_000014.7:g.76822858C>A	NCBI36
NG_008897.1:g.39121G>T , LRG_844:g.39121G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.855G>T	ENSP00000451967.2:p.Gln285His
ENST00000682247.1:c.1314G>T	ENSP00000507213.1:p.Gln438His
ENST00000682382.1:c.886G>T
ENST00000682395.1:n.1492G>T
ENST00000682459.1:n.1017G>T
ENST00000682467.1:c.1314G>T	ENSP00000508062.1:p.Gln438His
ENST00000682706.1:n.91G>T
ENST00000682795.1:c.1314G>T	ENSP00000507574.1:p.Gln438His
ENST00000682895.1:n.1030G>T
ENST00000682955.1:n.602G>T
ENST00000683188.1:c.1289G>T
ENST00000683328.1:c.307G>T	ENSP00000508096.1:n.307G>T
ENST00000683380.1:n.978G>T
ENST00000683828.1:c.1023G>T
ENST00000684259.1:n.1165G>T
ENST00000684444.1:c.61G>T
ENST00000684549.1:n.865G>T
ENST00000261534.9:c.1314G>T MANE Select	ENSP00000261534.4:p.Gln438His
ENST00000261534.8:c.1314G>T	ENSP00000261534.4:p.Gln438His
ENST00000452340.7:n.1337G>T
ENST00000553880.5:n.185G>T
ENST00000554767.5:n.2100G>T
ENST00000554884.5:n.306G>T
ENST00000556404.1:n.448G>T
ENST00000556851.1:n.350G>T
ENST00000557675.5:n.404G>T
NM_013382.5:c.1314G>T , LRG_844t1:c.1314G>T	NP_037514.2:p.Gln438His
XM_011536675.1:c.1314G>T	XP_011534977.1:p.Gln438His
XM_011536676.1:c.981G>T	XP_011534978.1:p.Gln327His
XM_011536677.1:c.855G>T	XP_011534979.1:p.Gln285His
XM_011536678.1:c.1314G>T	XP_011534980.1:p.Gln438His
XM_011536679.1:c.408G>T	XP_011534981.1:p.Gln136His
XR_943416.1:n.1517G>T
XM_011536675.2:c.1314G>T	XP_011534977.1:p.Gln438His
XM_011536676.2:c.981G>T	XP_011534978.1:p.Gln327His
XM_011536677.3:c.855G>T	XP_011534979.1:p.Gln285His
XR_001750279.1:n.1514G>T
XR_001750282.1:n.1967G>T
XR_943416.3:n.1515G>T
NM_013382.6:c.1314G>T	NP_037514.2:p.Gln438His
NM_013382.7:c.1314G>T MANE Select	NP_037514.2:p.Gln438His