Canonical Allele Identifier: CA390513681

Gene: POMT2

Linked Data

• dbSNP Id: rs1890070274
• gnomAD v3: 14-77278502-A-G
• gnomAD v4: 14-77278502-A-G
• MyVariant Identifiers: chr14:g.77744845A>G (hg19) ; chr14:g.77278502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278502A>G , CM000676.2:g.77278502A>G	GRCh38
NC_000014.8:g.77744845A>G , CM000676.1:g.77744845A>G	GRCh37
NC_000014.7:g.76814598A>G	NCBI36
NG_008897.1:g.47381T>C , LRG_844:g.47381T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.964T>C
ENST00000556394.2:c.1580T>C	ENSP00000451967.2:p.Leu527Pro
ENST00000682247.1:c.2028T>C	ENSP00000507213.1:p.Ser676=
ENST00000682395.1:n.2503T>C
ENST00000682459.1:n.1742T>C
ENST00000682467.1:c.1898T>C	ENSP00000508062.1:p.Leu633Pro
ENST00000682795.1:c.2186T>C	ENSP00000507574.1:p.Leu729Pro
ENST00000682895.1:n.1755T>C
ENST00000682955.1:n.1613T>C
ENST00000683188.1:c.2300T>C
ENST00000683380.1:n.1703T>C
ENST00000683907.1:c.304T>C	ENSP00000507754.1:n.304T>C
ENST00000684259.1:n.3806T>C
ENST00000684538.1:n.1418T>C
ENST00000684549.1:n.1590T>C
ENST00000261534.9:c.2039T>C MANE Select	ENSP00000261534.4:p.Leu680Pro
ENST00000261534.8:c.2039T>C	ENSP00000261534.4:p.Leu680Pro
ENST00000452340.7:n.3015T>C
ENST00000554767.5:n.2825T>C
ENST00000555710.1:c.400T>C	ENSP00000451730.1:n.400T>C
ENST00000556394.1:c.94T>C
ENST00000556446.1:n.340T>C
ENST00000602717.5:c.254T>C	ENSP00000487704.1:p.Leu85Pro
NM_013382.5:c.2039T>C , LRG_844t1:c.2039T>C	NP_037514.2:p.Leu680Pro
XM_011536675.1:c.2228T>C	XP_011534977.1:p.Leu743Pro
XM_011536676.1:c.1895T>C	XP_011534978.1:p.Leu632Pro
XM_011536677.1:c.1769T>C	XP_011534979.1:p.Leu590Pro
XM_011536679.1:c.1322T>C	XP_011534981.1:p.Leu441Pro
XR_943416.1:n.2292T>C
XM_011536675.2:c.2228T>C	XP_011534977.1:p.Leu743Pro
XM_011536676.2:c.1895T>C	XP_011534978.1:p.Leu632Pro
XM_011536677.3:c.1769T>C	XP_011534979.1:p.Leu590Pro
XR_001750279.1:n.2325T>C
XR_001750282.1:n.2978T>C
XR_943416.3:n.2290T>C
NM_013382.6:c.2039T>C	NP_037514.2:p.Leu680Pro
NM_013382.7:c.2039T>C MANE Select	NP_037514.2:p.Leu680Pro