Canonical Allele Identifier: CA295447

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1512013
• ClinVar RCV Id: RCV002020701 ; RCV003134353
• dbSNP Id: rs727502859
• ExAC: 14:77744828 G / A
• gnomAD v2: 14-77744828-G-A
• gnomAD v3: 14-77278485-G-A
• gnomAD v4: 14-77278485-G-A
• MyVariant Identifiers: chr14:g.77744828G>A (hg19) ; chr14:g.77278485G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278485G>A , CM000676.2:g.77278485G>A	GRCh38
NC_000014.8:g.77744828G>A , CM000676.1:g.77744828G>A	GRCh37
NC_000014.7:g.76814581G>A	NCBI36
NG_008897.1:g.47398C>T , LRG_844:g.47398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.981C>T
ENST00000556394.2:c.1597C>T	ENSP00000451967.2:p.Arg533Trp
ENST00000682247.1:c.2045C>T	ENSP00000507213.1:p.Ala682Val
ENST00000682395.1:n.2520C>T
ENST00000682459.1:n.1759C>T
ENST00000682467.1:c.1915C>T	ENSP00000508062.1:p.Arg639Trp
ENST00000682795.1:c.2203C>T	ENSP00000507574.1:p.Arg735Trp
ENST00000682895.1:n.1772C>T
ENST00000682955.1:n.1630C>T
ENST00000683188.1:c.2317C>T
ENST00000683380.1:n.1720C>T
ENST00000683907.1:c.321C>T	ENSP00000507754.1:n.321C>T
ENST00000684259.1:n.3823C>T
ENST00000684538.1:n.1435C>T
ENST00000684549.1:n.1607C>T
ENST00000261534.9:c.2056C>T MANE Select	ENSP00000261534.4:p.Arg686Trp
ENST00000261534.8:c.2056C>T	ENSP00000261534.4:p.Arg686Trp
ENST00000452340.7:n.3032C>T
ENST00000554767.5:n.2842C>T
ENST00000555710.1:c.417C>T	ENSP00000451730.1:n.417C>T
ENST00000556394.1:c.111C>T
ENST00000556446.1:n.357C>T
ENST00000602717.5:c.271C>T	ENSP00000487704.1:p.Arg91Trp
NM_013382.5:c.2056C>T , LRG_844t1:c.2056C>T	NP_037514.2:p.Arg686Trp
XM_011536675.1:c.2245C>T	XP_011534977.1:p.Arg749Trp
XM_011536676.1:c.1912C>T	XP_011534978.1:p.Arg638Trp
XM_011536677.1:c.1786C>T	XP_011534979.1:p.Arg596Trp
XM_011536679.1:c.1339C>T	XP_011534981.1:p.Arg447Trp
XR_943416.1:n.2309C>T
XM_011536675.2:c.2245C>T	XP_011534977.1:p.Arg749Trp
XM_011536676.2:c.1912C>T	XP_011534978.1:p.Arg638Trp
XM_011536677.3:c.1786C>T	XP_011534979.1:p.Arg596Trp
XR_001750279.1:n.2342C>T
XR_001750282.1:n.2995C>T
XR_943416.3:n.2307C>T
NM_013382.6:c.2056C>T	NP_037514.2:p.Arg686Trp
NM_013382.7:c.2056C>T MANE Select	NP_037514.2:p.Arg686Trp