Canonical Allele Identifier: CA390513920

Gene: POMT2

Linked Data

• COSMIC: COSM3498212
• MyVariant Identifiers: chr14:g.77745123G>A (hg19) ; chr14:g.77278780G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278780G>A , CM000676.2:g.77278780G>A	GRCh38
NC_000014.8:g.77745123G>A , CM000676.1:g.77745123G>A	GRCh37
NC_000014.7:g.76814876G>A	NCBI36
NG_008897.1:g.47103C>T , LRG_844:g.47103C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.906C>T
ENST00000556394.2:c.1522C>T	ENSP00000451967.2:p.Leu508Phe
ENST00000682128.1:c.282C>T	ENSP00000506976.1:n.282C>T
ENST00000682247.1:c.1970C>T	ENSP00000507213.1:p.Pro657Leu
ENST00000682395.1:n.2445C>T
ENST00000682459.1:n.1684C>T
ENST00000682467.1:c.1892-272C>T	ENSP00000508062.1:n.1892-272C>T
ENST00000682615.1:n.335C>T
ENST00000682795.1:c.2128C>T	ENSP00000507574.1:p.Leu710Phe
ENST00000682895.1:n.1697C>T
ENST00000682955.1:n.1555C>T
ENST00000683095.1:c.387C>T	ENSP00000508040.1:n.387C>T
ENST00000683188.1:c.2242C>T
ENST00000683380.1:n.1645C>T
ENST00000683907.1:c.246C>T	ENSP00000507754.1:n.246C>T
ENST00000684172.1:c.357C>T	ENSP00000508391.1:n.357C>T
ENST00000684259.1:n.3748C>T
ENST00000684538.1:n.1360C>T
ENST00000684549.1:n.1532C>T
ENST00000261534.9:c.1981C>T MANE Select	ENSP00000261534.4:p.Leu661Phe
ENST00000261534.8:c.1981C>T	ENSP00000261534.4:p.Leu661Phe
ENST00000452340.7:n.2957C>T
ENST00000554767.5:n.2767C>T
ENST00000555710.1:c.342C>T	ENSP00000451730.1:n.342C>T
ENST00000556171.1:c.573C>T
ENST00000556394.1:c.88-272C>T
ENST00000556446.1:n.282C>T
ENST00000602717.5:c.196C>T	ENSP00000487704.1:p.Leu66Phe
NM_013382.5:c.1981C>T , LRG_844t1:c.1981C>T	NP_037514.2:p.Leu661Phe
XM_011536675.1:c.2170C>T	XP_011534977.1:p.Leu724Phe
XM_011536676.1:c.1837C>T	XP_011534978.1:p.Leu613Phe
XM_011536677.1:c.1711C>T	XP_011534979.1:p.Leu571Phe
XM_011536679.1:c.1264C>T	XP_011534981.1:p.Leu422Phe
XR_943416.1:n.2234C>T
XM_011536675.2:c.2170C>T	XP_011534977.1:p.Leu724Phe
XM_011536676.2:c.1837C>T	XP_011534978.1:p.Leu613Phe
XM_011536677.3:c.1711C>T	XP_011534979.1:p.Leu571Phe
XR_001750279.1:n.2267C>T
XR_001750282.1:n.2920C>T
XR_943416.3:n.2232C>T
NM_013382.6:c.1981C>T	NP_037514.2:p.Leu661Phe
NM_013382.7:c.1981C>T MANE Select	NP_037514.2:p.Leu661Phe