Canonical Allele Identifier: CA390513613

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278484-C-A
• MyVariant Identifiers: chr14:g.77744827C>A (hg19) ; chr14:g.77278484C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278484C>A , CM000676.2:g.77278484C>A	GRCh38
NC_000014.8:g.77744827C>A , CM000676.1:g.77744827C>A	GRCh37
NC_000014.7:g.76814580C>A	NCBI36
NG_008897.1:g.47399G>T , LRG_844:g.47399G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.982G>T
ENST00000556394.2:c.1598G>T	ENSP00000451967.2:p.Arg533Leu
ENST00000682247.1:c.2046G>T	ENSP00000507213.1:p.Ala682=
ENST00000682395.1:n.2521G>T
ENST00000682459.1:n.1760G>T
ENST00000682467.1:c.1916G>T	ENSP00000508062.1:p.Arg639Leu
ENST00000682795.1:c.2204G>T	ENSP00000507574.1:p.Arg735Leu
ENST00000682895.1:n.1773G>T
ENST00000682955.1:n.1631G>T
ENST00000683188.1:c.2318G>T
ENST00000683380.1:n.1721G>T
ENST00000683907.1:c.322G>T	ENSP00000507754.1:n.322G>T
ENST00000684259.1:n.3824G>T
ENST00000684538.1:n.1436G>T
ENST00000684549.1:n.1608G>T
ENST00000261534.9:c.2057G>T MANE Select	ENSP00000261534.4:p.Arg686Leu
ENST00000261534.8:c.2057G>T	ENSP00000261534.4:p.Arg686Leu
ENST00000452340.7:n.3033G>T
ENST00000554767.5:n.2843G>T
ENST00000555710.1:c.418G>T	ENSP00000451730.1:n.418G>T
ENST00000556394.1:c.112G>T
ENST00000556446.1:n.358G>T
ENST00000602717.5:c.272G>T	ENSP00000487704.1:p.Arg91Leu
NM_013382.5:c.2057G>T , LRG_844t1:c.2057G>T	NP_037514.2:p.Arg686Leu
XM_011536675.1:c.2246G>T	XP_011534977.1:p.Arg749Leu
XM_011536676.1:c.1913G>T	XP_011534978.1:p.Arg638Leu
XM_011536677.1:c.1787G>T	XP_011534979.1:p.Arg596Leu
XM_011536679.1:c.1340G>T	XP_011534981.1:p.Arg447Leu
XR_943416.1:n.2310G>T
XM_011536675.2:c.2246G>T	XP_011534977.1:p.Arg749Leu
XM_011536676.2:c.1913G>T	XP_011534978.1:p.Arg638Leu
XM_011536677.3:c.1787G>T	XP_011534979.1:p.Arg596Leu
XR_001750279.1:n.2343G>T
XR_001750282.1:n.2996G>T
XR_943416.3:n.2308G>T
NM_013382.6:c.2057G>T	NP_037514.2:p.Arg686Leu
NM_013382.7:c.2057G>T MANE Select	NP_037514.2:p.Arg686Leu