Canonical Allele Identifier: CA390513759

Gene: POMT2

Linked Data

• COSMIC: COSM1663624
• MyVariant Identifiers: chr14:g.77745088G>C (hg19) ; chr14:g.77278745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278745G>C , CM000676.2:g.77278745G>C	GRCh38
NC_000014.8:g.77745088G>C , CM000676.1:g.77745088G>C	GRCh37
NC_000014.7:g.76814841G>C	NCBI36
NG_008897.1:g.47138C>G , LRG_844:g.47138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.941C>G
ENST00000556394.2:c.1557C>G	ENSP00000451967.2:p.Phe519Leu
ENST00000682128.1:c.317C>G	ENSP00000506976.1:n.317C>G
ENST00000682247.1:c.2005C>G	ENSP00000507213.1:p.Leu669Val
ENST00000682395.1:n.2480C>G
ENST00000682459.1:n.1719C>G
ENST00000682467.1:c.1892-237C>G	ENSP00000508062.1:n.1892-237C>G
ENST00000682615.1:n.370C>G
ENST00000682795.1:c.2163C>G	ENSP00000507574.1:p.Phe721Leu
ENST00000682895.1:n.1732C>G
ENST00000682955.1:n.1590C>G
ENST00000683095.1:c.422C>G	ENSP00000508040.1:n.422C>G
ENST00000683188.1:c.2277C>G
ENST00000683380.1:n.1680C>G
ENST00000683907.1:c.281C>G	ENSP00000507754.1:n.281C>G
ENST00000684172.1:c.392C>G	ENSP00000508391.1:n.392C>G
ENST00000684259.1:n.3783C>G
ENST00000684538.1:n.1395C>G
ENST00000684549.1:n.1567C>G
ENST00000261534.9:c.2016C>G MANE Select	ENSP00000261534.4:p.Phe672Leu
ENST00000261534.8:c.2016C>G	ENSP00000261534.4:p.Phe672Leu
ENST00000452340.7:n.2992C>G
ENST00000554767.5:n.2802C>G
ENST00000555710.1:c.377C>G	ENSP00000451730.1:n.377C>G
ENST00000556394.1:c.88-237C>G
ENST00000556446.1:n.317C>G
ENST00000602717.5:c.231C>G	ENSP00000487704.1:p.Phe77Leu
NM_013382.5:c.2016C>G , LRG_844t1:c.2016C>G	NP_037514.2:p.Phe672Leu
XM_011536675.1:c.2205C>G	XP_011534977.1:p.Phe735Leu
XM_011536676.1:c.1872C>G	XP_011534978.1:p.Phe624Leu
XM_011536677.1:c.1746C>G	XP_011534979.1:p.Phe582Leu
XM_011536679.1:c.1299C>G	XP_011534981.1:p.Phe433Leu
XR_943416.1:n.2269C>G
XM_011536675.2:c.2205C>G	XP_011534977.1:p.Phe735Leu
XM_011536676.2:c.1872C>G	XP_011534978.1:p.Phe624Leu
XM_011536677.3:c.1746C>G	XP_011534979.1:p.Phe582Leu
XR_001750279.1:n.2302C>G
XR_001750282.1:n.2955C>G
XR_943416.3:n.2267C>G
NM_013382.6:c.2016C>G	NP_037514.2:p.Phe672Leu
NM_013382.7:c.2016C>G MANE Select	NP_037514.2:p.Phe672Leu