Canonical Allele Identifier: CA390514158

Gene: POMT2

Linked Data

• dbSNP Id: rs1233838351
• gnomAD v2: 14-77745180-G-A
• gnomAD v4: 14-77278837-G-A
• MyVariant Identifiers: chr14:g.77745180G>A (hg19) ; chr14:g.77278837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278837G>A , CM000676.2:g.77278837G>A	GRCh38
NC_000014.8:g.77745180G>A , CM000676.1:g.77745180G>A	GRCh37
NC_000014.7:g.76814933G>A	NCBI36
NG_008897.1:g.47046C>T , LRG_844:g.47046C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.849C>T
ENST00000556394.2:c.1465C>T	ENSP00000451967.2:p.Gln489Ter
ENST00000682128.1:c.225C>T	ENSP00000506976.1:n.225C>T
ENST00000682247.1:c.1913C>T	ENSP00000507213.1:p.Pro638Leu
ENST00000682395.1:n.2388C>T
ENST00000682459.1:n.1627C>T
ENST00000682467.1:c.1892-329C>T	ENSP00000508062.1:n.1892-329C>T
ENST00000682615.1:n.278C>T
ENST00000682795.1:c.2071C>T	ENSP00000507574.1:p.Gln691Ter
ENST00000682895.1:n.1640C>T
ENST00000682955.1:n.1498C>T
ENST00000683095.1:c.330C>T	ENSP00000508040.1:n.330C>T
ENST00000683188.1:c.2185C>T
ENST00000683380.1:n.1588C>T
ENST00000683828.1:c.1633C>T
ENST00000683907.1:c.189C>T	ENSP00000507754.1:p.Ala63=
ENST00000684172.1:c.300C>T	ENSP00000508391.1:n.300C>T
ENST00000684259.1:n.3691C>T
ENST00000684538.1:n.1303C>T
ENST00000684549.1:n.1475C>T
ENST00000261534.9:c.1924C>T MANE Select	ENSP00000261534.4:p.Gln642Ter
ENST00000261534.8:c.1924C>T	ENSP00000261534.4:p.Gln642Ter
ENST00000452340.7:n.2900C>T
ENST00000554767.5:n.2710C>T
ENST00000555134.1:n.849C>T
ENST00000555710.1:c.285C>T	ENSP00000451730.1:n.285C>T
ENST00000556171.1:c.516C>T
ENST00000556394.1:c.88-329C>T
ENST00000556446.1:n.225C>T
ENST00000602717.5:c.139C>T	ENSP00000487704.1:p.Gln47Ter
NM_013382.5:c.1924C>T , LRG_844t1:c.1924C>T	NP_037514.2:p.Gln642Ter
XM_011536675.1:c.2113C>T	XP_011534977.1:p.Gln705Ter
XM_011536676.1:c.1780C>T	XP_011534978.1:p.Gln594Ter
XM_011536677.1:c.1654C>T	XP_011534979.1:p.Gln552Ter
XM_011536679.1:c.1207C>T	XP_011534981.1:p.Gln403Ter
XR_943416.1:n.2177C>T
XM_011536675.2:c.2113C>T	XP_011534977.1:p.Gln705Ter
XM_011536676.2:c.1780C>T	XP_011534978.1:p.Gln594Ter
XM_011536677.3:c.1654C>T	XP_011534979.1:p.Gln552Ter
XR_001750279.1:n.2210C>T
XR_001750282.1:n.2863C>T
XR_943416.3:n.2175C>T
NM_013382.6:c.1924C>T	NP_037514.2:p.Gln642Ter
NM_013382.7:c.1924C>T MANE Select	NP_037514.2:p.Gln642Ter