Canonical Allele Identifier: CA390513917

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278779-A-G
• MyVariant Identifiers: chr14:g.77745122A>G (hg19) ; chr14:g.77278779A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278779A>G , CM000676.2:g.77278779A>G	GRCh38
NC_000014.8:g.77745122A>G , CM000676.1:g.77745122A>G	GRCh37
NC_000014.7:g.76814875A>G	NCBI36
NG_008897.1:g.47104T>C , LRG_844:g.47104T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.907T>C
ENST00000556394.2:c.1523T>C	ENSP00000451967.2:p.Leu508Pro
ENST00000682128.1:c.283T>C	ENSP00000506976.1:n.283T>C
ENST00000682247.1:c.1971T>C	ENSP00000507213.1:p.Pro657=
ENST00000682395.1:n.2446T>C
ENST00000682459.1:n.1685T>C
ENST00000682467.1:c.1892-271T>C	ENSP00000508062.1:n.1892-271T>C
ENST00000682615.1:n.336T>C
ENST00000682795.1:c.2129T>C	ENSP00000507574.1:p.Leu710Pro
ENST00000682895.1:n.1698T>C
ENST00000682955.1:n.1556T>C
ENST00000683095.1:c.388T>C	ENSP00000508040.1:n.388T>C
ENST00000683188.1:c.2243T>C
ENST00000683380.1:n.1646T>C
ENST00000683907.1:c.247T>C	ENSP00000507754.1:n.247T>C
ENST00000684172.1:c.358T>C	ENSP00000508391.1:n.358T>C
ENST00000684259.1:n.3749T>C
ENST00000684538.1:n.1361T>C
ENST00000684549.1:n.1533T>C
ENST00000261534.9:c.1982T>C MANE Select	ENSP00000261534.4:p.Leu661Pro
ENST00000261534.8:c.1982T>C	ENSP00000261534.4:p.Leu661Pro
ENST00000452340.7:n.2958T>C
ENST00000554767.5:n.2768T>C
ENST00000555710.1:c.343T>C	ENSP00000451730.1:n.343T>C
ENST00000556171.1:c.574T>C
ENST00000556394.1:c.88-271T>C
ENST00000556446.1:n.283T>C
ENST00000602717.5:c.197T>C	ENSP00000487704.1:p.Leu66Pro
NM_013382.5:c.1982T>C , LRG_844t1:c.1982T>C	NP_037514.2:p.Leu661Pro
XM_011536675.1:c.2171T>C	XP_011534977.1:p.Leu724Pro
XM_011536676.1:c.1838T>C	XP_011534978.1:p.Leu613Pro
XM_011536677.1:c.1712T>C	XP_011534979.1:p.Leu571Pro
XM_011536679.1:c.1265T>C	XP_011534981.1:p.Leu422Pro
XR_943416.1:n.2235T>C
XM_011536675.2:c.2171T>C	XP_011534977.1:p.Leu724Pro
XM_011536676.2:c.1838T>C	XP_011534978.1:p.Leu613Pro
XM_011536677.3:c.1712T>C	XP_011534979.1:p.Leu571Pro
XR_001750279.1:n.2268T>C
XR_001750282.1:n.2921T>C
XR_943416.3:n.2233T>C
NM_013382.6:c.1982T>C	NP_037514.2:p.Leu661Pro
NM_013382.7:c.1982T>C MANE Select	NP_037514.2:p.Leu661Pro