Canonical Allele Identifier: CA2575587532

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278496-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278499del , CM000676.2:g.77278499del	GRCh38
NC_000014.8:g.77744842del , CM000676.1:g.77744842del	GRCh37
NC_000014.7:g.76814595del	NCBI36
NG_008897.1:g.47386del , LRG_844:g.47386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.969del
ENST00000556394.2:c.1585del	ENSP00000451967.2:p.Asp529ThrfsTer26
ENST00000682247.1:c.2033del	ENSP00000507213.1:p.Gly678AspfsTer?
ENST00000682395.1:n.2508del
ENST00000682459.1:n.1747del
ENST00000682467.1:c.1903del	ENSP00000508062.1:p.Asp635ThrfsTer26
ENST00000682795.1:c.2191del	ENSP00000507574.1:p.Asp731ThrfsTer26
ENST00000682895.1:n.1760del
ENST00000682955.1:n.1618del
ENST00000683188.1:c.2305del
ENST00000683380.1:n.1708del
ENST00000683907.1:c.309del	ENSP00000507754.1:n.309del
ENST00000684259.1:n.3811del
ENST00000684538.1:n.1423del
ENST00000684549.1:n.1595del
ENST00000261534.9:c.2044del MANE Select	ENSP00000261534.4:p.Asp682ThrfsTer26
ENST00000261534.8:c.2044del	ENSP00000261534.4:p.Asp682ThrfsTer26
ENST00000452340.7:n.3020del
ENST00000554767.5:n.2830del
ENST00000555710.1:c.405del	ENSP00000451730.1:n.405del
ENST00000556394.1:c.99del
ENST00000556446.1:n.345del
ENST00000602717.5:c.259del	ENSP00000487704.1:p.Asp87ThrfsTer26
NM_013382.5:c.2044del , LRG_844t1:c.2044del	NP_037514.2:p.Asp682ThrfsTer26
XM_011536675.1:c.2233del	XP_011534977.1:p.Asp745ThrfsTer26
XM_011536676.1:c.1900del	XP_011534978.1:p.Asp634ThrfsTer26
XM_011536677.1:c.1774del	XP_011534979.1:p.Asp592ThrfsTer26
XM_011536679.1:c.1327del	XP_011534981.1:p.Asp443ThrfsTer26
XR_943416.1:n.2297del
XM_011536675.2:c.2233del	XP_011534977.1:p.Asp745ThrfsTer26
XM_011536676.2:c.1900del	XP_011534978.1:p.Asp634ThrfsTer26
XM_011536677.3:c.1774del	XP_011534979.1:p.Asp592ThrfsTer26
XR_001750279.1:n.2330del
XR_001750282.1:n.2983del
XR_943416.3:n.2295del
NM_013382.6:c.2044del	NP_037514.2:p.Asp682ThrfsTer26
NM_013382.7:c.2044del MANE Select	NP_037514.2:p.Asp682ThrfsTer26