Canonical Allele Identifier: CA390514225

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745198G>T (hg19) ; chr14:g.77278855G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278855G>T , CM000676.2:g.77278855G>T	GRCh38
NC_000014.8:g.77745198G>T , CM000676.1:g.77745198G>T	GRCh37
NC_000014.7:g.76814951G>T	NCBI36
NG_008897.1:g.47028C>A , LRG_844:g.47028C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.831C>A
ENST00000556394.2:c.1447C>A	ENSP00000451967.2:p.Leu483Met
ENST00000682128.1:c.207C>A	ENSP00000506976.1:n.207C>A
ENST00000682247.1:c.1895C>A	ENSP00000507213.1:p.Pro632His
ENST00000682395.1:n.2370C>A
ENST00000682459.1:n.1609C>A
ENST00000682467.1:c.1892-347C>A	ENSP00000508062.1:n.1892-347C>A
ENST00000682615.1:n.260C>A
ENST00000682795.1:c.2053C>A	ENSP00000507574.1:p.Leu685Met
ENST00000682895.1:n.1622C>A
ENST00000682955.1:n.1480C>A
ENST00000683095.1:c.312C>A	ENSP00000508040.1:n.312C>A
ENST00000683188.1:c.2167C>A
ENST00000683380.1:n.1570C>A
ENST00000683828.1:c.1615C>A
ENST00000683907.1:c.171C>A	ENSP00000507754.1:p.Ser57=
ENST00000684172.1:c.282C>A	ENSP00000508391.1:n.282C>A
ENST00000684259.1:n.3673C>A
ENST00000684538.1:n.1285C>A
ENST00000684549.1:n.1457C>A
ENST00000261534.9:c.1906C>A MANE Select	ENSP00000261534.4:p.Leu636Met
ENST00000261534.8:c.1906C>A	ENSP00000261534.4:p.Leu636Met
ENST00000452340.7:n.2882C>A
ENST00000554767.5:n.2692C>A
ENST00000555134.1:n.831C>A
ENST00000555710.1:c.267C>A	ENSP00000451730.1:n.267C>A
ENST00000556171.1:c.498C>A
ENST00000556394.1:c.88-347C>A
ENST00000556446.1:n.207C>A
ENST00000602717.5:c.121C>A	ENSP00000487704.1:p.Leu41Met
NM_013382.5:c.1906C>A , LRG_844t1:c.1906C>A	NP_037514.2:p.Leu636Met
XM_011536675.1:c.2095C>A	XP_011534977.1:p.Leu699Met
XM_011536676.1:c.1762C>A	XP_011534978.1:p.Leu588Met
XM_011536677.1:c.1636C>A	XP_011534979.1:p.Leu546Met
XM_011536679.1:c.1189C>A	XP_011534981.1:p.Leu397Met
XR_943416.1:n.2159C>A
XM_011536675.2:c.2095C>A	XP_011534977.1:p.Leu699Met
XM_011536676.2:c.1762C>A	XP_011534978.1:p.Leu588Met
XM_011536677.3:c.1636C>A	XP_011534979.1:p.Leu546Met
XR_001750279.1:n.2192C>A
XR_001750282.1:n.2845C>A
XR_943416.3:n.2157C>A
NM_013382.6:c.1906C>A	NP_037514.2:p.Leu636Met
NM_013382.7:c.1906C>A MANE Select	NP_037514.2:p.Leu636Met