Canonical Allele Identifier: CA390513656

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278495-G-T
• MyVariant Identifiers: chr14:g.77744838G>T (hg19) ; chr14:g.77278495G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278495G>T , CM000676.2:g.77278495G>T	GRCh38
NC_000014.8:g.77744838G>T , CM000676.1:g.77744838G>T	GRCh37
NC_000014.7:g.76814591G>T	NCBI36
NG_008897.1:g.47388C>A , LRG_844:g.47388C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.971C>A
ENST00000556394.2:c.1587C>A	ENSP00000451967.2:p.Asp529Glu
ENST00000682247.1:c.2035C>A	ENSP00000507213.1:p.His679Asn
ENST00000682395.1:n.2510C>A
ENST00000682459.1:n.1749C>A
ENST00000682467.1:c.1905C>A	ENSP00000508062.1:p.Asp635Glu
ENST00000682795.1:c.2193C>A	ENSP00000507574.1:p.Asp731Glu
ENST00000682895.1:n.1762C>A
ENST00000682955.1:n.1620C>A
ENST00000683188.1:c.2307C>A
ENST00000683380.1:n.1710C>A
ENST00000683907.1:c.311C>A	ENSP00000507754.1:n.311C>A
ENST00000684259.1:n.3813C>A
ENST00000684538.1:n.1425C>A
ENST00000684549.1:n.1597C>A
ENST00000261534.9:c.2046C>A MANE Select	ENSP00000261534.4:p.Asp682Glu
ENST00000261534.8:c.2046C>A	ENSP00000261534.4:p.Asp682Glu
ENST00000452340.7:n.3022C>A
ENST00000554767.5:n.2832C>A
ENST00000555710.1:c.407C>A	ENSP00000451730.1:n.407C>A
ENST00000556394.1:c.101C>A
ENST00000556446.1:n.347C>A
ENST00000602717.5:c.261C>A	ENSP00000487704.1:p.Asp87Glu
NM_013382.5:c.2046C>A , LRG_844t1:c.2046C>A	NP_037514.2:p.Asp682Glu
XM_011536675.1:c.2235C>A	XP_011534977.1:p.Asp745Glu
XM_011536676.1:c.1902C>A	XP_011534978.1:p.Asp634Glu
XM_011536677.1:c.1776C>A	XP_011534979.1:p.Asp592Glu
XM_011536679.1:c.1329C>A	XP_011534981.1:p.Asp443Glu
XR_943416.1:n.2299C>A
XM_011536675.2:c.2235C>A	XP_011534977.1:p.Asp745Glu
XM_011536676.2:c.1902C>A	XP_011534978.1:p.Asp634Glu
XM_011536677.3:c.1776C>A	XP_011534979.1:p.Asp592Glu
XR_001750279.1:n.2332C>A
XR_001750282.1:n.2985C>A
XR_943416.3:n.2297C>A
NM_013382.6:c.2046C>A	NP_037514.2:p.Asp682Glu
NM_013382.7:c.2046C>A MANE Select	NP_037514.2:p.Asp682Glu