Canonical Allele Identifier: CA390513566

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278472-C-A
• MyVariant Identifiers: chr14:g.77744815C>A (hg19) ; chr14:g.77278472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278472C>A , CM000676.2:g.77278472C>A	GRCh38
NC_000014.8:g.77744815C>A , CM000676.1:g.77744815C>A	GRCh37
NC_000014.7:g.76814568C>A	NCBI36
NG_008897.1:g.47411G>T , LRG_844:g.47411G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.994G>T
ENST00000556394.2:c.1610G>T	ENSP00000451967.2:p.Trp537Leu
ENST00000682247.1:c.2058G>T	ENSP00000507213.1:p.Leu686=
ENST00000682395.1:n.2533G>T
ENST00000682459.1:n.1772G>T
ENST00000682467.1:c.1928G>T	ENSP00000508062.1:p.Trp643Leu
ENST00000682795.1:c.2216G>T	ENSP00000507574.1:p.Trp739Leu
ENST00000682895.1:n.1785G>T
ENST00000682955.1:n.1643G>T
ENST00000683188.1:c.2330G>T
ENST00000683380.1:n.1733G>T
ENST00000683907.1:c.334G>T	ENSP00000507754.1:n.334G>T
ENST00000684259.1:n.3836G>T
ENST00000684538.1:n.1448G>T
ENST00000684549.1:n.1620G>T
ENST00000261534.9:c.2069G>T MANE Select	ENSP00000261534.4:p.Trp690Leu
ENST00000261534.8:c.2069G>T	ENSP00000261534.4:p.Trp690Leu
ENST00000452340.7:n.3045G>T
ENST00000554767.5:n.2855G>T
ENST00000555710.1:c.430G>T	ENSP00000451730.1:n.430G>T
ENST00000556394.1:c.124G>T
ENST00000556446.1:n.370G>T
ENST00000602717.5:c.284G>T	ENSP00000487704.1:p.Trp95Leu
NM_013382.5:c.2069G>T , LRG_844t1:c.2069G>T	NP_037514.2:p.Trp690Leu
XM_011536675.1:c.2258G>T	XP_011534977.1:p.Trp753Leu
XM_011536676.1:c.1925G>T	XP_011534978.1:p.Trp642Leu
XM_011536677.1:c.1799G>T	XP_011534979.1:p.Trp600Leu
XM_011536679.1:c.1352G>T	XP_011534981.1:p.Trp451Leu
XR_943416.1:n.2322G>T
XM_011536675.2:c.2258G>T	XP_011534977.1:p.Trp753Leu
XM_011536676.2:c.1925G>T	XP_011534978.1:p.Trp642Leu
XM_011536677.3:c.1799G>T	XP_011534979.1:p.Trp600Leu
XR_001750279.1:n.2355G>T
XR_001750282.1:n.3008G>T
XR_943416.3:n.2320G>T
NM_013382.6:c.2069G>T	NP_037514.2:p.Trp690Leu
NM_013382.7:c.2069G>T MANE Select	NP_037514.2:p.Trp690Leu