Canonical Allele Identifier: CA487509366

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745124G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278781G>T , CM000676.2:g.77278781G>T	GRCh38
NC_000014.8:g.77745124G>T , CM000676.1:g.77745124G>T	GRCh37
NC_000014.7:g.76814877G>T	NCBI36
NG_008897.1:g.47102C>A , LRG_844:g.47102C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.905C>A
ENST00000556394.2:c.1521C>A	ENSP00000451967.2:p.Val507=
ENST00000682128.1:c.281C>A	ENSP00000506976.1:n.281C>A
ENST00000682247.1:c.1969C>A	ENSP00000507213.1:p.Pro657Thr
ENST00000682395.1:n.2444C>A
ENST00000682459.1:n.1683C>A
ENST00000682467.1:c.1892-273C>A	ENSP00000508062.1:n.1892-273C>A
ENST00000682615.1:n.334C>A
ENST00000682795.1:c.2127C>A	ENSP00000507574.1:p.Val709=
ENST00000682895.1:n.1696C>A
ENST00000682955.1:n.1554C>A
ENST00000683095.1:c.386C>A	ENSP00000508040.1:n.386C>A
ENST00000683188.1:c.2241C>A
ENST00000683380.1:n.1644C>A
ENST00000683907.1:c.245C>A	ENSP00000507754.1:n.245C>A
ENST00000684172.1:c.356C>A	ENSP00000508391.1:n.356C>A
ENST00000684259.1:n.3747C>A
ENST00000684538.1:n.1359C>A
ENST00000684549.1:n.1531C>A
ENST00000261534.9:c.1980C>A MANE Select	ENSP00000261534.4:p.Val660=
ENST00000261534.8:c.1980C>A	ENSP00000261534.4:p.Val660=
ENST00000452340.7:n.2956C>A
ENST00000554767.5:n.2766C>A
ENST00000555710.1:c.341C>A	ENSP00000451730.1:n.341C>A
ENST00000556171.1:c.572C>A
ENST00000556394.1:c.88-273C>A
ENST00000556446.1:n.281C>A
ENST00000602717.5:c.195C>A	ENSP00000487704.1:p.Val65=
NM_013382.5:c.1980C>A , LRG_844t1:c.1980C>A	NP_037514.2:p.Val660=
XM_011536675.1:c.2169C>A	XP_011534977.1:p.Val723=
XM_011536676.1:c.1836C>A	XP_011534978.1:p.Val612=
XM_011536677.1:c.1710C>A	XP_011534979.1:p.Val570=
XM_011536679.1:c.1263C>A	XP_011534981.1:p.Val421=
XR_943416.1:n.2233C>A
XM_011536675.2:c.2169C>A	XP_011534977.1:p.Val723=
XM_011536676.2:c.1836C>A	XP_011534978.1:p.Val612=
XM_011536677.3:c.1710C>A	XP_011534979.1:p.Val570=
XR_001750279.1:n.2266C>A
XR_001750282.1:n.2919C>A
XR_943416.3:n.2231C>A
NM_013382.6:c.1980C>A	NP_037514.2:p.Val660=
NM_013382.7:c.1980C>A MANE Select	NP_037514.2:p.Val660=