Canonical Allele Identifier: CA390514250

Gene: POMT2

Linked Data

• dbSNP Id: rs1200536141
• gnomAD v3: 14-77278861-G-A
• gnomAD v4: 14-77278861-G-A
• MyVariant Identifiers: chr14:g.77745204G>A (hg19) ; chr14:g.77278861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278861G>A , CM000676.2:g.77278861G>A	GRCh38
NC_000014.8:g.77745204G>A , CM000676.1:g.77745204G>A	GRCh37
NC_000014.7:g.76814957G>A	NCBI36
NG_008897.1:g.47022C>T , LRG_844:g.47022C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.825C>T
ENST00000556394.2:c.1441C>T	ENSP00000451967.2:p.Gln481Ter
ENST00000682128.1:c.201C>T	ENSP00000506976.1:n.201C>T
ENST00000682247.1:c.1892-3C>T	ENSP00000507213.1:n.1892-3C>T
ENST00000682395.1:n.2364C>T
ENST00000682459.1:n.1603C>T
ENST00000682467.1:c.1892-353C>T	ENSP00000508062.1:n.1892-353C>T
ENST00000682615.1:n.254C>T
ENST00000682795.1:c.2047C>T	ENSP00000507574.1:p.Gln683Ter
ENST00000682895.1:n.1616C>T
ENST00000682955.1:n.1474C>T
ENST00000683095.1:c.306C>T	ENSP00000508040.1:n.306C>T
ENST00000683188.1:c.2161C>T
ENST00000683380.1:n.1564C>T
ENST00000683828.1:c.1609C>T
ENST00000683907.1:c.165C>T	ENSP00000507754.1:p.Pro55=
ENST00000684172.1:c.276C>T	ENSP00000508391.1:n.276C>T
ENST00000684259.1:n.3667C>T
ENST00000684538.1:n.1279C>T
ENST00000684549.1:n.1451C>T
ENST00000261534.9:c.1900C>T MANE Select	ENSP00000261534.4:p.Gln634Ter
ENST00000261534.8:c.1900C>T	ENSP00000261534.4:p.Gln634Ter
ENST00000452340.7:n.2876C>T
ENST00000554767.5:n.2686C>T
ENST00000555134.1:n.825C>T
ENST00000555710.1:c.261C>T	ENSP00000451730.1:n.261C>T
ENST00000556171.1:c.492C>T
ENST00000556394.1:c.88-353C>T
ENST00000556446.1:n.201C>T
ENST00000602717.5:c.115C>T	ENSP00000487704.1:p.Gln39Ter
NM_013382.5:c.1900C>T , LRG_844t1:c.1900C>T	NP_037514.2:p.Gln634Ter
XM_011536675.1:c.2089C>T	XP_011534977.1:p.Gln697Ter
XM_011536676.1:c.1756C>T	XP_011534978.1:p.Gln586Ter
XM_011536677.1:c.1630C>T	XP_011534979.1:p.Gln544Ter
XM_011536679.1:c.1183C>T	XP_011534981.1:p.Gln395Ter
XR_943416.1:n.2153C>T
XM_011536675.2:c.2089C>T	XP_011534977.1:p.Gln697Ter
XM_011536676.2:c.1756C>T	XP_011534978.1:p.Gln586Ter
XM_011536677.3:c.1630C>T	XP_011534979.1:p.Gln544Ter
XR_001750279.1:n.2186C>T
XR_001750282.1:n.2839C>T
XR_943416.3:n.2151C>T
NM_013382.6:c.1900C>T	NP_037514.2:p.Gln634Ter
NM_013382.7:c.1900C>T MANE Select	NP_037514.2:p.Gln634Ter