Canonical Allele Identifier: CA390513973

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278795-G-T
• MyVariant Identifiers: chr14:g.77745138G>T (hg19) ; chr14:g.77278795G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278795G>T , CM000676.2:g.77278795G>T	GRCh38
NC_000014.8:g.77745138G>T , CM000676.1:g.77745138G>T	GRCh37
NC_000014.7:g.76814891G>T	NCBI36
NG_008897.1:g.47088C>A , LRG_844:g.47088C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.891C>A
ENST00000556394.2:c.1507C>A	ENSP00000451967.2:p.Leu503Met
ENST00000682128.1:c.267C>A	ENSP00000506976.1:n.267C>A
ENST00000682247.1:c.1955C>A	ENSP00000507213.1:p.Pro652His
ENST00000682395.1:n.2430C>A
ENST00000682459.1:n.1669C>A
ENST00000682467.1:c.1892-287C>A	ENSP00000508062.1:n.1892-287C>A
ENST00000682615.1:n.320C>A
ENST00000682795.1:c.2113C>A	ENSP00000507574.1:p.Leu705Met
ENST00000682895.1:n.1682C>A
ENST00000682955.1:n.1540C>A
ENST00000683095.1:c.372C>A	ENSP00000508040.1:n.372C>A
ENST00000683188.1:c.2227C>A
ENST00000683380.1:n.1630C>A
ENST00000683828.1:c.1675C>A
ENST00000683907.1:c.231C>A	ENSP00000507754.1:p.Ser77=
ENST00000684172.1:c.342C>A	ENSP00000508391.1:n.342C>A
ENST00000684259.1:n.3733C>A
ENST00000684538.1:n.1345C>A
ENST00000684549.1:n.1517C>A
ENST00000261534.9:c.1966C>A MANE Select	ENSP00000261534.4:p.Leu656Met
ENST00000261534.8:c.1966C>A	ENSP00000261534.4:p.Leu656Met
ENST00000452340.7:n.2942C>A
ENST00000554767.5:n.2752C>A
ENST00000555710.1:c.327C>A	ENSP00000451730.1:n.327C>A
ENST00000556171.1:c.558C>A
ENST00000556394.1:c.88-287C>A
ENST00000556446.1:n.267C>A
ENST00000602717.5:c.181C>A	ENSP00000487704.1:p.Leu61Met
NM_013382.5:c.1966C>A , LRG_844t1:c.1966C>A	NP_037514.2:p.Leu656Met
XM_011536675.1:c.2155C>A	XP_011534977.1:p.Leu719Met
XM_011536676.1:c.1822C>A	XP_011534978.1:p.Leu608Met
XM_011536677.1:c.1696C>A	XP_011534979.1:p.Leu566Met
XM_011536679.1:c.1249C>A	XP_011534981.1:p.Leu417Met
XR_943416.1:n.2219C>A
XM_011536675.2:c.2155C>A	XP_011534977.1:p.Leu719Met
XM_011536676.2:c.1822C>A	XP_011534978.1:p.Leu608Met
XM_011536677.3:c.1696C>A	XP_011534979.1:p.Leu566Met
XR_001750279.1:n.2252C>A
XR_001750282.1:n.2905C>A
XR_943416.3:n.2217C>A
NM_013382.6:c.1966C>A	NP_037514.2:p.Leu656Met
NM_013382.7:c.1966C>A MANE Select	NP_037514.2:p.Leu656Met