Canonical Allele Identifier: CA487509435

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278814-G-A
• MyVariant Identifiers: chr14:g.77745157G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278814G>A , CM000676.2:g.77278814G>A	GRCh38
NC_000014.8:g.77745157G>A , CM000676.1:g.77745157G>A	GRCh37
NC_000014.7:g.76814910G>A	NCBI36
NG_008897.1:g.47069C>T , LRG_844:g.47069C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.872C>T
ENST00000556394.2:c.1488C>T	ENSP00000451967.2:p.Leu496=
ENST00000682128.1:c.248C>T	ENSP00000506976.1:n.248C>T
ENST00000682247.1:c.1936C>T	ENSP00000507213.1:p.Pro646Ser
ENST00000682395.1:n.2411C>T
ENST00000682459.1:n.1650C>T
ENST00000682467.1:c.1892-306C>T	ENSP00000508062.1:n.1892-306C>T
ENST00000682615.1:n.301C>T
ENST00000682795.1:c.2094C>T	ENSP00000507574.1:p.Leu698=
ENST00000682895.1:n.1663C>T
ENST00000682955.1:n.1521C>T
ENST00000683095.1:c.353C>T	ENSP00000508040.1:n.353C>T
ENST00000683188.1:c.2208C>T
ENST00000683380.1:n.1611C>T
ENST00000683828.1:c.1656C>T
ENST00000683907.1:c.212C>T	ENSP00000507754.1:p.Ser71Phe
ENST00000684172.1:c.323C>T	ENSP00000508391.1:n.323C>T
ENST00000684259.1:n.3714C>T
ENST00000684538.1:n.1326C>T
ENST00000684549.1:n.1498C>T
ENST00000261534.9:c.1947C>T MANE Select	ENSP00000261534.4:p.Leu649=
ENST00000261534.8:c.1947C>T	ENSP00000261534.4:p.Leu649=
ENST00000452340.7:n.2923C>T
ENST00000554767.5:n.2733C>T
ENST00000555134.1:n.872C>T
ENST00000555710.1:c.308C>T	ENSP00000451730.1:n.308C>T
ENST00000556171.1:c.539C>T
ENST00000556394.1:c.88-306C>T
ENST00000556446.1:n.248C>T
ENST00000602717.5:c.162C>T	ENSP00000487704.1:p.Leu54=
NM_013382.5:c.1947C>T , LRG_844t1:c.1947C>T	NP_037514.2:p.Leu649=
XM_011536675.1:c.2136C>T	XP_011534977.1:p.Leu712=
XM_011536676.1:c.1803C>T	XP_011534978.1:p.Leu601=
XM_011536677.1:c.1677C>T	XP_011534979.1:p.Leu559=
XM_011536679.1:c.1230C>T	XP_011534981.1:p.Leu410=
XR_943416.1:n.2200C>T
XM_011536675.2:c.2136C>T	XP_011534977.1:p.Leu712=
XM_011536676.2:c.1803C>T	XP_011534978.1:p.Leu601=
XM_011536677.3:c.1677C>T	XP_011534979.1:p.Leu559=
XR_001750279.1:n.2233C>T
XR_001750282.1:n.2886C>T
XR_943416.3:n.2198C>T
NM_013382.6:c.1947C>T	NP_037514.2:p.Leu649=
NM_013382.7:c.1947C>T MANE Select	NP_037514.2:p.Leu649=