Canonical Allele Identifier: CA390513666

Gene: POMT2

Linked Data

• dbSNP Id: rs1429159182
• gnomAD v2: 14-77744840-C-T
• gnomAD v4: 14-77278497-C-T
• MyVariant Identifiers: chr14:g.77744840C>T (hg19) ; chr14:g.77278497C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278497C>T , CM000676.2:g.77278497C>T	GRCh38
NC_000014.8:g.77744840C>T , CM000676.1:g.77744840C>T	GRCh37
NC_000014.7:g.76814593C>T	NCBI36
NG_008897.1:g.47386G>A , LRG_844:g.47386G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.969G>A
ENST00000556394.2:c.1585G>A	ENSP00000451967.2:p.Asp529Asn
ENST00000682247.1:c.2033G>A	ENSP00000507213.1:p.Gly678Glu
ENST00000682395.1:n.2508G>A
ENST00000682459.1:n.1747G>A
ENST00000682467.1:c.1903G>A	ENSP00000508062.1:p.Asp635Asn
ENST00000682795.1:c.2191G>A	ENSP00000507574.1:p.Asp731Asn
ENST00000682895.1:n.1760G>A
ENST00000682955.1:n.1618G>A
ENST00000683188.1:c.2305G>A
ENST00000683380.1:n.1708G>A
ENST00000683907.1:c.309G>A	ENSP00000507754.1:n.309G>A
ENST00000684259.1:n.3811G>A
ENST00000684538.1:n.1423G>A
ENST00000684549.1:n.1595G>A
ENST00000261534.9:c.2044G>A MANE Select	ENSP00000261534.4:p.Asp682Asn
ENST00000261534.8:c.2044G>A	ENSP00000261534.4:p.Asp682Asn
ENST00000452340.7:n.3020G>A
ENST00000554767.5:n.2830G>A
ENST00000555710.1:c.405G>A	ENSP00000451730.1:n.405G>A
ENST00000556394.1:c.99G>A
ENST00000556446.1:n.345G>A
ENST00000602717.5:c.259G>A	ENSP00000487704.1:p.Asp87Asn
NM_013382.5:c.2044G>A , LRG_844t1:c.2044G>A	NP_037514.2:p.Asp682Asn
XM_011536675.1:c.2233G>A	XP_011534977.1:p.Asp745Asn
XM_011536676.1:c.1900G>A	XP_011534978.1:p.Asp634Asn
XM_011536677.1:c.1774G>A	XP_011534979.1:p.Asp592Asn
XM_011536679.1:c.1327G>A	XP_011534981.1:p.Asp443Asn
XR_943416.1:n.2297G>A
XM_011536675.2:c.2233G>A	XP_011534977.1:p.Asp745Asn
XM_011536676.2:c.1900G>A	XP_011534978.1:p.Asp634Asn
XM_011536677.3:c.1774G>A	XP_011534979.1:p.Asp592Asn
XR_001750279.1:n.2330G>A
XR_001750282.1:n.2983G>A
XR_943416.3:n.2295G>A
NM_013382.6:c.2044G>A	NP_037514.2:p.Asp682Asn
NM_013382.7:c.2044G>A MANE Select	NP_037514.2:p.Asp682Asn