Canonical Allele Identifier: CA263816930

Gene: POMT2

Linked Data

• dbSNP Id: rs1038933045
• gnomAD v2: 14-77744794-A-G
• gnomAD v4: 14-77278451-A-G
• MyVariant Identifiers: chr14:g.77744794A>G (hg19) ; chr14:g.77278451A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278451A>G , CM000676.2:g.77278451A>G	GRCh38
NC_000014.8:g.77744794A>G , CM000676.1:g.77744794A>G	GRCh37
NC_000014.7:g.76814547A>G	NCBI36
NG_008897.1:g.47432T>C , LRG_844:g.47432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1015T>C
ENST00000556394.2:c.1631T>C	ENSP00000451967.2:p.Leu544Pro
ENST00000682247.1:c.2079T>C	ENSP00000507213.1:p.Pro693=
ENST00000682395.1:n.2554T>C
ENST00000682459.1:n.1793T>C
ENST00000682467.1:c.1949T>C	ENSP00000508062.1:p.Leu650Pro
ENST00000682795.1:c.2237T>C	ENSP00000507574.1:p.Leu746Pro
ENST00000682895.1:n.1806T>C
ENST00000682955.1:n.1664T>C
ENST00000683188.1:c.2351T>C
ENST00000683380.1:n.1754T>C
ENST00000683907.1:c.355T>C	ENSP00000507754.1:n.355T>C
ENST00000684259.1:n.3857T>C
ENST00000684538.1:n.1469T>C
ENST00000684549.1:n.1641T>C
ENST00000261534.9:c.2090T>C MANE Select	ENSP00000261534.4:p.Leu697Pro
ENST00000261534.8:c.2090T>C	ENSP00000261534.4:p.Leu697Pro
ENST00000452340.7:n.3066T>C
ENST00000554767.5:n.2876T>C
ENST00000555710.1:c.451T>C	ENSP00000451730.1:n.451T>C
ENST00000556394.1:c.145T>C
ENST00000556446.1:n.391T>C
ENST00000602717.5:c.305T>C	ENSP00000487704.1:p.Leu102Pro
NM_013382.5:c.2090T>C , LRG_844t1:c.2090T>C	NP_037514.2:p.Leu697Pro
XM_011536675.1:c.2279T>C	XP_011534977.1:p.Leu760Pro
XM_011536676.1:c.1946T>C	XP_011534978.1:p.Leu649Pro
XM_011536677.1:c.1820T>C	XP_011534979.1:p.Leu607Pro
XM_011536679.1:c.1373T>C	XP_011534981.1:p.Leu458Pro
XR_943416.1:n.2343T>C
XM_011536675.2:c.2279T>C	XP_011534977.1:p.Leu760Pro
XM_011536676.2:c.1946T>C	XP_011534978.1:p.Leu649Pro
XM_011536677.3:c.1820T>C	XP_011534979.1:p.Leu607Pro
XR_001750279.1:n.2376T>C
XR_001750282.1:n.3029T>C
XR_943416.3:n.2341T>C
NM_013382.6:c.2090T>C	NP_037514.2:p.Leu697Pro
NM_013382.7:c.2090T>C MANE Select	NP_037514.2:p.Leu697Pro