Canonical Allele Identifier: CA390514046

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745155T>A (hg19) ; chr14:g.77278812T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278812T>A , CM000676.2:g.77278812T>A	GRCh38
NC_000014.8:g.77745155T>A , CM000676.1:g.77745155T>A	GRCh37
NC_000014.7:g.76814908T>A	NCBI36
NG_008897.1:g.47071A>T , LRG_844:g.47071A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.874A>T
ENST00000556394.2:c.1490A>T	ENSP00000451967.2:p.His497Leu
ENST00000682128.1:c.250A>T	ENSP00000506976.1:n.250A>T
ENST00000682247.1:c.1938A>T	ENSP00000507213.1:p.Pro646=
ENST00000682395.1:n.2413A>T
ENST00000682459.1:n.1652A>T
ENST00000682467.1:c.1892-304A>T	ENSP00000508062.1:n.1892-304A>T
ENST00000682615.1:n.303A>T
ENST00000682795.1:c.2096A>T	ENSP00000507574.1:p.His699Leu
ENST00000682895.1:n.1665A>T
ENST00000682955.1:n.1523A>T
ENST00000683095.1:c.355A>T	ENSP00000508040.1:n.355A>T
ENST00000683188.1:c.2210A>T
ENST00000683380.1:n.1613A>T
ENST00000683828.1:c.1658A>T
ENST00000683907.1:c.214A>T	ENSP00000507754.1:p.Ile72Phe
ENST00000684172.1:c.325A>T	ENSP00000508391.1:n.325A>T
ENST00000684259.1:n.3716A>T
ENST00000684538.1:n.1328A>T
ENST00000684549.1:n.1500A>T
ENST00000261534.9:c.1949A>T MANE Select	ENSP00000261534.4:p.His650Leu
ENST00000261534.8:c.1949A>T	ENSP00000261534.4:p.His650Leu
ENST00000452340.7:n.2925A>T
ENST00000554767.5:n.2735A>T
ENST00000555710.1:c.310A>T	ENSP00000451730.1:n.310A>T
ENST00000556171.1:c.541A>T
ENST00000556394.1:c.88-304A>T
ENST00000556446.1:n.250A>T
ENST00000602717.5:c.164A>T	ENSP00000487704.1:p.His55Leu
NM_013382.5:c.1949A>T , LRG_844t1:c.1949A>T	NP_037514.2:p.His650Leu
XM_011536675.1:c.2138A>T	XP_011534977.1:p.His713Leu
XM_011536676.1:c.1805A>T	XP_011534978.1:p.His602Leu
XM_011536677.1:c.1679A>T	XP_011534979.1:p.His560Leu
XM_011536679.1:c.1232A>T	XP_011534981.1:p.His411Leu
XR_943416.1:n.2202A>T
XM_011536675.2:c.2138A>T	XP_011534977.1:p.His713Leu
XM_011536676.2:c.1805A>T	XP_011534978.1:p.His602Leu
XM_011536677.3:c.1679A>T	XP_011534979.1:p.His560Leu
XR_001750279.1:n.2235A>T
XR_001750282.1:n.2888A>T
XR_943416.3:n.2200A>T
NM_013382.6:c.1949A>T	NP_037514.2:p.His650Leu
NM_013382.7:c.1949A>T MANE Select	NP_037514.2:p.His650Leu