Canonical Allele Identifier: CA390514116

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278827-A-G
• MyVariant Identifiers: chr14:g.77745170A>G (hg19) ; chr14:g.77278827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278827A>G , CM000676.2:g.77278827A>G	GRCh38
NC_000014.8:g.77745170A>G , CM000676.1:g.77745170A>G	GRCh37
NC_000014.7:g.76814923A>G	NCBI36
NG_008897.1:g.47056T>C , LRG_844:g.47056T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.859T>C
ENST00000556394.2:c.1475T>C	ENSP00000451967.2:p.Leu492Pro
ENST00000682128.1:c.235T>C	ENSP00000506976.1:n.235T>C
ENST00000682247.1:c.1923T>C	ENSP00000507213.1:p.Ala641=
ENST00000682395.1:n.2398T>C
ENST00000682459.1:n.1637T>C
ENST00000682467.1:c.1892-319T>C	ENSP00000508062.1:n.1892-319T>C
ENST00000682615.1:n.288T>C
ENST00000682795.1:c.2081T>C	ENSP00000507574.1:p.Leu694Pro
ENST00000682895.1:n.1650T>C
ENST00000682955.1:n.1508T>C
ENST00000683095.1:c.340T>C	ENSP00000508040.1:n.340T>C
ENST00000683188.1:c.2195T>C
ENST00000683380.1:n.1598T>C
ENST00000683828.1:c.1643T>C
ENST00000683907.1:c.199T>C	ENSP00000507754.1:p.Ser67Pro
ENST00000684172.1:c.310T>C	ENSP00000508391.1:n.310T>C
ENST00000684259.1:n.3701T>C
ENST00000684538.1:n.1313T>C
ENST00000684549.1:n.1485T>C
ENST00000261534.9:c.1934T>C MANE Select	ENSP00000261534.4:p.Leu645Pro
ENST00000261534.8:c.1934T>C	ENSP00000261534.4:p.Leu645Pro
ENST00000452340.7:n.2910T>C
ENST00000554767.5:n.2720T>C
ENST00000555134.1:n.859T>C
ENST00000555710.1:c.295T>C	ENSP00000451730.1:n.295T>C
ENST00000556171.1:c.526T>C
ENST00000556394.1:c.88-319T>C
ENST00000556446.1:n.235T>C
ENST00000602717.5:c.149T>C	ENSP00000487704.1:p.Leu50Pro
NM_013382.5:c.1934T>C , LRG_844t1:c.1934T>C	NP_037514.2:p.Leu645Pro
XM_011536675.1:c.2123T>C	XP_011534977.1:p.Leu708Pro
XM_011536676.1:c.1790T>C	XP_011534978.1:p.Leu597Pro
XM_011536677.1:c.1664T>C	XP_011534979.1:p.Leu555Pro
XM_011536679.1:c.1217T>C	XP_011534981.1:p.Leu406Pro
XR_943416.1:n.2187T>C
XM_011536675.2:c.2123T>C	XP_011534977.1:p.Leu708Pro
XM_011536676.2:c.1790T>C	XP_011534978.1:p.Leu597Pro
XM_011536677.3:c.1664T>C	XP_011534979.1:p.Leu555Pro
XR_001750279.1:n.2220T>C
XR_001750282.1:n.2873T>C
XR_943416.3:n.2185T>C
NM_013382.6:c.1934T>C	NP_037514.2:p.Leu645Pro
NM_013382.7:c.1934T>C MANE Select	NP_037514.2:p.Leu645Pro