Canonical Allele Identifier: CA390514235

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745201C>A (hg19) ; chr14:g.77278858C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278858C>A , CM000676.2:g.77278858C>A	GRCh38
NC_000014.8:g.77745201C>A , CM000676.1:g.77745201C>A	GRCh37
NC_000014.7:g.76814954C>A	NCBI36
NG_008897.1:g.47025G>T , LRG_844:g.47025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.828G>T
ENST00000556394.2:c.1444G>T	ENSP00000451967.2:p.Val482Phe
ENST00000682128.1:c.204G>T	ENSP00000506976.1:n.204G>T
ENST00000682247.1:c.1892G>T	ENSP00000507213.1:p.Gly631Val
ENST00000682395.1:n.2367G>T
ENST00000682459.1:n.1606G>T
ENST00000682467.1:c.1892-350G>T	ENSP00000508062.1:n.1892-350G>T
ENST00000682615.1:n.257G>T
ENST00000682795.1:c.2050G>T	ENSP00000507574.1:p.Val684Phe
ENST00000682895.1:n.1619G>T
ENST00000682955.1:n.1477G>T
ENST00000683095.1:c.309G>T	ENSP00000508040.1:n.309G>T
ENST00000683188.1:c.2164G>T
ENST00000683380.1:n.1567G>T
ENST00000683828.1:c.1612G>T
ENST00000683907.1:c.168G>T	ENSP00000507754.1:p.Arg56Ser
ENST00000684172.1:c.279G>T	ENSP00000508391.1:n.279G>T
ENST00000684259.1:n.3670G>T
ENST00000684538.1:n.1282G>T
ENST00000684549.1:n.1454G>T
ENST00000261534.9:c.1903G>T MANE Select	ENSP00000261534.4:p.Val635Phe
ENST00000261534.8:c.1903G>T	ENSP00000261534.4:p.Val635Phe
ENST00000452340.7:n.2879G>T
ENST00000554767.5:n.2689G>T
ENST00000555134.1:n.828G>T
ENST00000555710.1:c.264G>T	ENSP00000451730.1:n.264G>T
ENST00000556171.1:c.495G>T
ENST00000556394.1:c.88-350G>T
ENST00000556446.1:n.204G>T
ENST00000602717.5:c.118G>T	ENSP00000487704.1:p.Val40Phe
NM_013382.5:c.1903G>T , LRG_844t1:c.1903G>T	NP_037514.2:p.Val635Phe
XM_011536675.1:c.2092G>T	XP_011534977.1:p.Val698Phe
XM_011536676.1:c.1759G>T	XP_011534978.1:p.Val587Phe
XM_011536677.1:c.1633G>T	XP_011534979.1:p.Val545Phe
XM_011536679.1:c.1186G>T	XP_011534981.1:p.Val396Phe
XR_943416.1:n.2156G>T
XM_011536675.2:c.2092G>T	XP_011534977.1:p.Val698Phe
XM_011536676.2:c.1759G>T	XP_011534978.1:p.Val587Phe
XM_011536677.3:c.1633G>T	XP_011534979.1:p.Val545Phe
XR_001750279.1:n.2189G>T
XR_001750282.1:n.2842G>T
XR_943416.3:n.2154G>T
NM_013382.6:c.1903G>T	NP_037514.2:p.Val635Phe
NM_013382.7:c.1903G>T MANE Select	NP_037514.2:p.Val635Phe