Canonical Allele Identifier: CA487324473

Gene: POMT2

Linked Data

• gnomAD v4: 14-77286801-A-G
• MyVariant Identifiers: chr14:g.77753144A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286801A>G , CM000676.2:g.77286801A>G	GRCh38
NC_000014.8:g.77753144A>G , CM000676.1:g.77753144A>G	GRCh37
NC_000014.7:g.76822897A>G	NCBI36
NG_008897.1:g.39082T>C , LRG_844:g.39082T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.816T>C	ENSP00000451967.2:p.Ser272=
ENST00000682247.1:c.1275T>C	ENSP00000507213.1:p.Ser425=
ENST00000682382.1:c.847T>C
ENST00000682395.1:n.1453T>C
ENST00000682459.1:n.978T>C
ENST00000682467.1:c.1275T>C	ENSP00000508062.1:p.Ser425=
ENST00000682706.1:n.52T>C
ENST00000682795.1:c.1275T>C	ENSP00000507574.1:p.Ser425=
ENST00000682895.1:n.991T>C
ENST00000682955.1:n.563T>C
ENST00000683188.1:c.1250T>C
ENST00000683328.1:c.268T>C	ENSP00000508096.1:n.268T>C
ENST00000683380.1:n.939T>C
ENST00000683828.1:c.984T>C
ENST00000684259.1:n.1126T>C
ENST00000684444.1:c.22T>C
ENST00000684549.1:n.826T>C
ENST00000261534.9:c.1275T>C MANE Select	ENSP00000261534.4:p.Ser425=
ENST00000261534.8:c.1275T>C	ENSP00000261534.4:p.Ser425=
ENST00000452340.7:n.1298T>C
ENST00000553880.5:n.146T>C
ENST00000554767.5:n.2061T>C
ENST00000554884.5:n.267T>C
ENST00000556404.1:n.409T>C
ENST00000556851.1:n.311T>C
ENST00000557675.5:n.365T>C
NM_013382.5:c.1275T>C , LRG_844t1:c.1275T>C	NP_037514.2:p.Ser425=
XM_011536675.1:c.1275T>C	XP_011534977.1:p.Ser425=
XM_011536676.1:c.942T>C	XP_011534978.1:p.Ser314=
XM_011536677.1:c.816T>C	XP_011534979.1:p.Ser272=
XM_011536678.1:c.1275T>C	XP_011534980.1:p.Ser425=
XM_011536679.1:c.369T>C	XP_011534981.1:p.Ser123=
XR_943416.1:n.1478T>C
XM_011536675.2:c.1275T>C	XP_011534977.1:p.Ser425=
XM_011536676.2:c.942T>C	XP_011534978.1:p.Ser314=
XM_011536677.3:c.816T>C	XP_011534979.1:p.Ser272=
XR_001750279.1:n.1475T>C
XR_001750282.1:n.1928T>C
XR_943416.3:n.1476T>C
NM_013382.6:c.1275T>C	NP_037514.2:p.Ser425=
NM_013382.7:c.1275T>C MANE Select	NP_037514.2:p.Ser425=