Canonical Allele Identifier: CA390513510

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1009G>T
ENST00000556394.2:c.1625G>T	ENSP00000451967.2:p.Trp542Leu
ENST00000682247.1:c.2073G>T	ENSP00000507213.1:p.Met691Ile
ENST00000682395.1:n.2548G>T
ENST00000682459.1:n.1787G>T
ENST00000682467.1:c.1943G>T	ENSP00000508062.1:p.Trp648Leu
ENST00000682795.1:c.2231G>T	ENSP00000507574.1:p.Trp744Leu
ENST00000682895.1:n.1800G>T
ENST00000682955.1:n.1658G>T
ENST00000683188.1:c.2345G>T
ENST00000683380.1:n.1748G>T
ENST00000683907.1:c.349G>T	ENSP00000507754.1:n.349G>T
ENST00000684259.1:n.3851G>T
ENST00000684538.1:n.1463G>T
ENST00000684549.1:n.1635G>T
ENST00000261534.9:c.2084G>T MANE Select	ENSP00000261534.4:p.Trp695Leu
ENST00000261534.8:c.2084G>T	ENSP00000261534.4:p.Trp695Leu
ENST00000452340.7:n.3060G>T
ENST00000554767.5:n.2870G>T
ENST00000555710.1:c.445G>T	ENSP00000451730.1:n.445G>T
ENST00000556394.1:c.139G>T
ENST00000556446.1:n.385G>T
ENST00000602717.5:c.299G>T	ENSP00000487704.1:p.Trp100Leu
NM_013382.5:c.2084G>T , LRG_844t1:c.2084G>T	NP_037514.2:p.Trp695Leu
XM_011536675.1:c.2273G>T	XP_011534977.1:p.Trp758Leu
XM_011536676.1:c.1940G>T	XP_011534978.1:p.Trp647Leu
XM_011536677.1:c.1814G>T	XP_011534979.1:p.Trp605Leu
XM_011536679.1:c.1367G>T	XP_011534981.1:p.Trp456Leu
XR_943416.1:n.2337G>T
XM_011536675.2:c.2273G>T	XP_011534977.1:p.Trp758Leu
XM_011536676.2:c.1940G>T	XP_011534978.1:p.Trp647Leu
XM_011536677.3:c.1814G>T	XP_011534979.1:p.Trp605Leu
XR_001750279.1:n.2370G>T
XR_001750282.1:n.3023G>T
XR_943416.3:n.2335G>T
NM_013382.6:c.2084G>T	NP_037514.2:p.Trp695Leu
NM_013382.7:c.2084G>T MANE Select	NP_037514.2:p.Trp695Leu