Canonical Allele Identifier: CA487509396

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278477-A-G
• MyVariant Identifiers: chr14:g.77744820A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278477A>G , CM000676.2:g.77278477A>G	GRCh38
NC_000014.8:g.77744820A>G , CM000676.1:g.77744820A>G	GRCh37
NC_000014.7:g.76814573A>G	NCBI36
NG_008897.1:g.47406T>C , LRG_844:g.47406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.989T>C
ENST00000556394.2:c.1605T>C	ENSP00000451967.2:p.Cys535=
ENST00000682247.1:c.2053T>C	ENSP00000507213.1:p.Cys685Arg
ENST00000682395.1:n.2528T>C
ENST00000682459.1:n.1767T>C
ENST00000682467.1:c.1923T>C	ENSP00000508062.1:p.Cys641=
ENST00000682795.1:c.2211T>C	ENSP00000507574.1:p.Cys737=
ENST00000682895.1:n.1780T>C
ENST00000682955.1:n.1638T>C
ENST00000683188.1:c.2325T>C
ENST00000683380.1:n.1728T>C
ENST00000683907.1:c.329T>C	ENSP00000507754.1:n.329T>C
ENST00000684259.1:n.3831T>C
ENST00000684538.1:n.1443T>C
ENST00000684549.1:n.1615T>C
ENST00000261534.9:c.2064T>C MANE Select	ENSP00000261534.4:p.Cys688=
ENST00000261534.8:c.2064T>C	ENSP00000261534.4:p.Cys688=
ENST00000452340.7:n.3040T>C
ENST00000554767.5:n.2850T>C
ENST00000555710.1:c.425T>C	ENSP00000451730.1:n.425T>C
ENST00000556394.1:c.119T>C
ENST00000556446.1:n.365T>C
ENST00000602717.5:c.279T>C	ENSP00000487704.1:p.Cys93=
NM_013382.5:c.2064T>C , LRG_844t1:c.2064T>C	NP_037514.2:p.Cys688=
XM_011536675.1:c.2253T>C	XP_011534977.1:p.Cys751=
XM_011536676.1:c.1920T>C	XP_011534978.1:p.Cys640=
XM_011536677.1:c.1794T>C	XP_011534979.1:p.Cys598=
XM_011536679.1:c.1347T>C	XP_011534981.1:p.Cys449=
XR_943416.1:n.2317T>C
XM_011536675.2:c.2253T>C	XP_011534977.1:p.Cys751=
XM_011536676.2:c.1920T>C	XP_011534978.1:p.Cys640=
XM_011536677.3:c.1794T>C	XP_011534979.1:p.Cys598=
XR_001750279.1:n.2350T>C
XR_001750282.1:n.3003T>C
XR_943416.3:n.2315T>C
NM_013382.6:c.2064T>C	NP_037514.2:p.Cys688=
NM_013382.7:c.2064T>C MANE Select	NP_037514.2:p.Cys688=