Canonical Allele Identifier: CA487509517

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278844-T-G
• MyVariant Identifiers: chr14:g.77745187T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278844T>G , CM000676.2:g.77278844T>G	GRCh38
NC_000014.8:g.77745187T>G , CM000676.1:g.77745187T>G	GRCh37
NC_000014.7:g.76814940T>G	NCBI36
NG_008897.1:g.47039A>C , LRG_844:g.47039A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.842A>C
ENST00000556394.2:c.1458A>C	ENSP00000451967.2:p.Gly486=
ENST00000682128.1:c.218A>C	ENSP00000506976.1:n.218A>C
ENST00000682247.1:c.1906A>C	ENSP00000507213.1:p.Arg636=
ENST00000682395.1:n.2381A>C
ENST00000682459.1:n.1620A>C
ENST00000682467.1:c.1892-336A>C	ENSP00000508062.1:n.1892-336A>C
ENST00000682615.1:n.271A>C
ENST00000682795.1:c.2064A>C	ENSP00000507574.1:p.Gly688=
ENST00000682895.1:n.1633A>C
ENST00000682955.1:n.1491A>C
ENST00000683095.1:c.323A>C	ENSP00000508040.1:n.323A>C
ENST00000683188.1:c.2178A>C
ENST00000683380.1:n.1581A>C
ENST00000683828.1:c.1626A>C
ENST00000683907.1:c.182A>C	ENSP00000507754.1:p.Glu61Ala
ENST00000684172.1:c.293A>C	ENSP00000508391.1:n.293A>C
ENST00000684259.1:n.3684A>C
ENST00000684538.1:n.1296A>C
ENST00000684549.1:n.1468A>C
ENST00000261534.9:c.1917A>C MANE Select	ENSP00000261534.4:p.Gly639=
ENST00000261534.8:c.1917A>C	ENSP00000261534.4:p.Gly639=
ENST00000452340.7:n.2893A>C
ENST00000554767.5:n.2703A>C
ENST00000555134.1:n.842A>C
ENST00000555710.1:c.278A>C	ENSP00000451730.1:n.278A>C
ENST00000556171.1:c.509A>C
ENST00000556394.1:c.88-336A>C
ENST00000556446.1:n.218A>C
ENST00000602717.5:c.132A>C	ENSP00000487704.1:p.Gly44=
NM_013382.5:c.1917A>C , LRG_844t1:c.1917A>C	NP_037514.2:p.Gly639=
XM_011536675.1:c.2106A>C	XP_011534977.1:p.Gly702=
XM_011536676.1:c.1773A>C	XP_011534978.1:p.Gly591=
XM_011536677.1:c.1647A>C	XP_011534979.1:p.Gly549=
XM_011536679.1:c.1200A>C	XP_011534981.1:p.Gly400=
XR_943416.1:n.2170A>C
XM_011536675.2:c.2106A>C	XP_011534977.1:p.Gly702=
XM_011536676.2:c.1773A>C	XP_011534978.1:p.Gly591=
XM_011536677.3:c.1647A>C	XP_011534979.1:p.Gly549=
XR_001750279.1:n.2203A>C
XR_001750282.1:n.2856A>C
XR_943416.3:n.2168A>C
NM_013382.6:c.1917A>C	NP_037514.2:p.Gly639=
NM_013382.7:c.1917A>C MANE Select	NP_037514.2:p.Gly639=