Canonical Allele Identifier: CA390514055

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745158A>T (hg19) ; chr14:g.77278815A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278815A>T , CM000676.2:g.77278815A>T	GRCh38
NC_000014.8:g.77745158A>T , CM000676.1:g.77745158A>T	GRCh37
NC_000014.7:g.76814911A>T	NCBI36
NG_008897.1:g.47068T>A , LRG_844:g.47068T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.871T>A
ENST00000556394.2:c.1487T>A	ENSP00000451967.2:p.Leu496His
ENST00000682128.1:c.247T>A	ENSP00000506976.1:n.247T>A
ENST00000682247.1:c.1935T>A	ENSP00000507213.1:p.Thr645=
ENST00000682395.1:n.2410T>A
ENST00000682459.1:n.1649T>A
ENST00000682467.1:c.1892-307T>A	ENSP00000508062.1:n.1892-307T>A
ENST00000682615.1:n.300T>A
ENST00000682795.1:c.2093T>A	ENSP00000507574.1:p.Leu698His
ENST00000682895.1:n.1662T>A
ENST00000682955.1:n.1520T>A
ENST00000683095.1:c.352T>A	ENSP00000508040.1:n.352T>A
ENST00000683188.1:c.2207T>A
ENST00000683380.1:n.1610T>A
ENST00000683828.1:c.1655T>A
ENST00000683907.1:c.211T>A	ENSP00000507754.1:p.Ser71Thr
ENST00000684172.1:c.322T>A	ENSP00000508391.1:n.322T>A
ENST00000684259.1:n.3713T>A
ENST00000684538.1:n.1325T>A
ENST00000684549.1:n.1497T>A
ENST00000261534.9:c.1946T>A MANE Select	ENSP00000261534.4:p.Leu649His
ENST00000261534.8:c.1946T>A	ENSP00000261534.4:p.Leu649His
ENST00000452340.7:n.2922T>A
ENST00000554767.5:n.2732T>A
ENST00000555134.1:n.871T>A
ENST00000555710.1:c.307T>A	ENSP00000451730.1:n.307T>A
ENST00000556171.1:c.538T>A
ENST00000556394.1:c.88-307T>A
ENST00000556446.1:n.247T>A
ENST00000602717.5:c.161T>A	ENSP00000487704.1:p.Leu54His
NM_013382.5:c.1946T>A , LRG_844t1:c.1946T>A	NP_037514.2:p.Leu649His
XM_011536675.1:c.2135T>A	XP_011534977.1:p.Leu712His
XM_011536676.1:c.1802T>A	XP_011534978.1:p.Leu601His
XM_011536677.1:c.1676T>A	XP_011534979.1:p.Leu559His
XM_011536679.1:c.1229T>A	XP_011534981.1:p.Leu410His
XR_943416.1:n.2199T>A
XM_011536675.2:c.2135T>A	XP_011534977.1:p.Leu712His
XM_011536676.2:c.1802T>A	XP_011534978.1:p.Leu601His
XM_011536677.3:c.1676T>A	XP_011534979.1:p.Leu559His
XR_001750279.1:n.2232T>A
XR_001750282.1:n.2885T>A
XR_943416.3:n.2197T>A
NM_013382.6:c.1946T>A	NP_037514.2:p.Leu649His
NM_013382.7:c.1946T>A MANE Select	NP_037514.2:p.Leu649His