Canonical Allele Identifier: CA390513670

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278498-C-A
• MyVariant Identifiers: chr14:g.77744841C>A (hg19) ; chr14:g.77278498C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278498C>A , CM000676.2:g.77278498C>A	GRCh38
NC_000014.8:g.77744841C>A , CM000676.1:g.77744841C>A	GRCh37
NC_000014.7:g.76814594C>A	NCBI36
NG_008897.1:g.47385G>T , LRG_844:g.47385G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.968G>T
ENST00000556394.2:c.1584G>T	ENSP00000451967.2:p.Trp528Cys
ENST00000682247.1:c.2032G>T	ENSP00000507213.1:p.Gly678Ter
ENST00000682395.1:n.2507G>T
ENST00000682459.1:n.1746G>T
ENST00000682467.1:c.1902G>T	ENSP00000508062.1:p.Trp634Cys
ENST00000682795.1:c.2190G>T	ENSP00000507574.1:p.Trp730Cys
ENST00000682895.1:n.1759G>T
ENST00000682955.1:n.1617G>T
ENST00000683188.1:c.2304G>T
ENST00000683380.1:n.1707G>T
ENST00000683907.1:c.308G>T	ENSP00000507754.1:n.308G>T
ENST00000684259.1:n.3810G>T
ENST00000684538.1:n.1422G>T
ENST00000684549.1:n.1594G>T
ENST00000261534.9:c.2043G>T MANE Select	ENSP00000261534.4:p.Trp681Cys
ENST00000261534.8:c.2043G>T	ENSP00000261534.4:p.Trp681Cys
ENST00000452340.7:n.3019G>T
ENST00000554767.5:n.2829G>T
ENST00000555710.1:c.404G>T	ENSP00000451730.1:n.404G>T
ENST00000556394.1:c.98G>T
ENST00000556446.1:n.344G>T
ENST00000602717.5:c.258G>T	ENSP00000487704.1:p.Trp86Cys
NM_013382.5:c.2043G>T , LRG_844t1:c.2043G>T	NP_037514.2:p.Trp681Cys
XM_011536675.1:c.2232G>T	XP_011534977.1:p.Trp744Cys
XM_011536676.1:c.1899G>T	XP_011534978.1:p.Trp633Cys
XM_011536677.1:c.1773G>T	XP_011534979.1:p.Trp591Cys
XM_011536679.1:c.1326G>T	XP_011534981.1:p.Trp442Cys
XR_943416.1:n.2296G>T
XM_011536675.2:c.2232G>T	XP_011534977.1:p.Trp744Cys
XM_011536676.2:c.1899G>T	XP_011534978.1:p.Trp633Cys
XM_011536677.3:c.1773G>T	XP_011534979.1:p.Trp591Cys
XR_001750279.1:n.2329G>T
XR_001750282.1:n.2982G>T
XR_943416.3:n.2294G>T
NM_013382.6:c.2043G>T	NP_037514.2:p.Trp681Cys
NM_013382.7:c.2043G>T MANE Select	NP_037514.2:p.Trp681Cys