Canonical Allele Identifier: CA390513715

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745076C>G (hg19) ; chr14:g.77278733C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278733C>G , CM000676.2:g.77278733C>G	GRCh38
NC_000014.8:g.77745076C>G , CM000676.1:g.77745076C>G	GRCh37
NC_000014.7:g.76814829C>G	NCBI36
NG_008897.1:g.47150G>C , LRG_844:g.47150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.953G>C
ENST00000556394.2:c.1569G>C	ENSP00000451967.2:p.Leu523Phe
ENST00000682128.1:c.329G>C	ENSP00000506976.1:n.329G>C
ENST00000682247.1:c.2017G>C	ENSP00000507213.1:p.Asp673His
ENST00000682395.1:n.2492G>C
ENST00000682459.1:n.1731G>C
ENST00000682467.1:c.1892-225G>C	ENSP00000508062.1:n.1892-225G>C
ENST00000682615.1:n.382G>C
ENST00000682795.1:c.2175G>C	ENSP00000507574.1:p.Leu725Phe
ENST00000682895.1:n.1744G>C
ENST00000682955.1:n.1602G>C
ENST00000683095.1:c.434G>C	ENSP00000508040.1:n.434G>C
ENST00000683188.1:c.2289G>C
ENST00000683380.1:n.1692G>C
ENST00000683907.1:c.293G>C	ENSP00000507754.1:n.293G>C
ENST00000684172.1:c.404G>C	ENSP00000508391.1:n.404G>C
ENST00000684259.1:n.3795G>C
ENST00000684538.1:n.1407G>C
ENST00000684549.1:n.1579G>C
ENST00000261534.9:c.2028G>C MANE Select	ENSP00000261534.4:p.Leu676Phe
ENST00000261534.8:c.2028G>C	ENSP00000261534.4:p.Leu676Phe
ENST00000452340.7:n.3004G>C
ENST00000554767.5:n.2814G>C
ENST00000555710.1:c.389G>C	ENSP00000451730.1:n.389G>C
ENST00000556394.1:c.88-225G>C
ENST00000556446.1:n.329G>C
ENST00000602717.5:c.243G>C	ENSP00000487704.1:p.Leu81Phe
NM_013382.5:c.2028G>C , LRG_844t1:c.2028G>C	NP_037514.2:p.Leu676Phe
XM_011536675.1:c.2217G>C	XP_011534977.1:p.Leu739Phe
XM_011536676.1:c.1884G>C	XP_011534978.1:p.Leu628Phe
XM_011536677.1:c.1758G>C	XP_011534979.1:p.Leu586Phe
XM_011536679.1:c.1311G>C	XP_011534981.1:p.Leu437Phe
XR_943416.1:n.2281G>C
XM_011536675.2:c.2217G>C	XP_011534977.1:p.Leu739Phe
XM_011536676.2:c.1884G>C	XP_011534978.1:p.Leu628Phe
XM_011536677.3:c.1758G>C	XP_011534979.1:p.Leu586Phe
XR_001750279.1:n.2314G>C
XR_001750282.1:n.2967G>C
XR_943416.3:n.2279G>C
NM_013382.6:c.2028G>C	NP_037514.2:p.Leu676Phe
NM_013382.7:c.2028G>C MANE Select	NP_037514.2:p.Leu676Phe