Canonical Allele Identifier: CA390513586

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278476-C-A
• MyVariant Identifiers: chr14:g.77744819C>A (hg19) ; chr14:g.77278476C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278476C>A , CM000676.2:g.77278476C>A	GRCh38
NC_000014.8:g.77744819C>A , CM000676.1:g.77744819C>A	GRCh37
NC_000014.7:g.76814572C>A	NCBI36
NG_008897.1:g.47407G>T , LRG_844:g.47407G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.990G>T
ENST00000556394.2:c.1606G>T	ENSP00000451967.2:p.Ala536Ser
ENST00000682247.1:c.2054G>T	ENSP00000507213.1:p.Cys685Phe
ENST00000682395.1:n.2529G>T
ENST00000682459.1:n.1768G>T
ENST00000682467.1:c.1924G>T	ENSP00000508062.1:p.Ala642Ser
ENST00000682795.1:c.2212G>T	ENSP00000507574.1:p.Ala738Ser
ENST00000682895.1:n.1781G>T
ENST00000682955.1:n.1639G>T
ENST00000683188.1:c.2326G>T
ENST00000683380.1:n.1729G>T
ENST00000683907.1:c.330G>T	ENSP00000507754.1:n.330G>T
ENST00000684259.1:n.3832G>T
ENST00000684538.1:n.1444G>T
ENST00000684549.1:n.1616G>T
ENST00000261534.9:c.2065G>T MANE Select	ENSP00000261534.4:p.Ala689Ser
ENST00000261534.8:c.2065G>T	ENSP00000261534.4:p.Ala689Ser
ENST00000452340.7:n.3041G>T
ENST00000554767.5:n.2851G>T
ENST00000555710.1:c.426G>T	ENSP00000451730.1:n.426G>T
ENST00000556394.1:c.120G>T
ENST00000556446.1:n.366G>T
ENST00000602717.5:c.280G>T	ENSP00000487704.1:p.Ala94Ser
NM_013382.5:c.2065G>T , LRG_844t1:c.2065G>T	NP_037514.2:p.Ala689Ser
XM_011536675.1:c.2254G>T	XP_011534977.1:p.Ala752Ser
XM_011536676.1:c.1921G>T	XP_011534978.1:p.Ala641Ser
XM_011536677.1:c.1795G>T	XP_011534979.1:p.Ala599Ser
XM_011536679.1:c.1348G>T	XP_011534981.1:p.Ala450Ser
XR_943416.1:n.2318G>T
XM_011536675.2:c.2254G>T	XP_011534977.1:p.Ala752Ser
XM_011536676.2:c.1921G>T	XP_011534978.1:p.Ala641Ser
XM_011536677.3:c.1795G>T	XP_011534979.1:p.Ala599Ser
XR_001750279.1:n.2351G>T
XR_001750282.1:n.3004G>T
XR_943416.3:n.2316G>T
NM_013382.6:c.2065G>T	NP_037514.2:p.Ala689Ser
NM_013382.7:c.2065G>T MANE Select	NP_037514.2:p.Ala689Ser