Canonical Allele Identifier: CA390513513

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278457-C-T
• MyVariant Identifiers: chr14:g.77744800C>T (hg19) ; chr14:g.77278457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278457C>T , CM000676.2:g.77278457C>T	GRCh38
NC_000014.8:g.77744800C>T , CM000676.1:g.77744800C>T	GRCh37
NC_000014.7:g.76814553C>T	NCBI36
NG_008897.1:g.47426G>A , LRG_844:g.47426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1009G>A
ENST00000556394.2:c.1625G>A	ENSP00000451967.2:p.Trp542Ter
ENST00000682247.1:c.2073G>A	ENSP00000507213.1:p.Met691Ile
ENST00000682395.1:n.2548G>A
ENST00000682459.1:n.1787G>A
ENST00000682467.1:c.1943G>A	ENSP00000508062.1:p.Trp648Ter
ENST00000682795.1:c.2231G>A	ENSP00000507574.1:p.Trp744Ter
ENST00000682895.1:n.1800G>A
ENST00000682955.1:n.1658G>A
ENST00000683188.1:c.2345G>A
ENST00000683380.1:n.1748G>A
ENST00000683907.1:c.349G>A	ENSP00000507754.1:n.349G>A
ENST00000684259.1:n.3851G>A
ENST00000684538.1:n.1463G>A
ENST00000684549.1:n.1635G>A
ENST00000261534.9:c.2084G>A MANE Select	ENSP00000261534.4:p.Trp695Ter
ENST00000261534.8:c.2084G>A	ENSP00000261534.4:p.Trp695Ter
ENST00000452340.7:n.3060G>A
ENST00000554767.5:n.2870G>A
ENST00000555710.1:c.445G>A	ENSP00000451730.1:n.445G>A
ENST00000556394.1:c.139G>A
ENST00000556446.1:n.385G>A
ENST00000602717.5:c.299G>A	ENSP00000487704.1:p.Trp100Ter
NM_013382.5:c.2084G>A , LRG_844t1:c.2084G>A	NP_037514.2:p.Trp695Ter
XM_011536675.1:c.2273G>A	XP_011534977.1:p.Trp758Ter
XM_011536676.1:c.1940G>A	XP_011534978.1:p.Trp647Ter
XM_011536677.1:c.1814G>A	XP_011534979.1:p.Trp605Ter
XM_011536679.1:c.1367G>A	XP_011534981.1:p.Trp456Ter
XR_943416.1:n.2337G>A
XM_011536675.2:c.2273G>A	XP_011534977.1:p.Trp758Ter
XM_011536676.2:c.1940G>A	XP_011534978.1:p.Trp647Ter
XM_011536677.3:c.1814G>A	XP_011534979.1:p.Trp605Ter
XR_001750279.1:n.2370G>A
XR_001750282.1:n.3023G>A
XR_943416.3:n.2335G>A
NM_013382.6:c.2084G>A	NP_037514.2:p.Trp695Ter
NM_013382.7:c.2084G>A MANE Select	NP_037514.2:p.Trp695Ter