Canonical Allele Identifier: CA390513527

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278461-A-G
• MyVariant Identifiers: chr14:g.77744804A>G (hg19) ; chr14:g.77278461A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278461A>G , CM000676.2:g.77278461A>G	GRCh38
NC_000014.8:g.77744804A>G , CM000676.1:g.77744804A>G	GRCh37
NC_000014.7:g.76814557A>G	NCBI36
NG_008897.1:g.47422T>C , LRG_844:g.47422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1005T>C
ENST00000556394.2:c.1621T>C	ENSP00000451967.2:p.Ser541Pro
ENST00000682247.1:c.2069T>C	ENSP00000507213.1:p.Leu690Pro
ENST00000682395.1:n.2544T>C
ENST00000682459.1:n.1783T>C
ENST00000682467.1:c.1939T>C	ENSP00000508062.1:p.Ser647Pro
ENST00000682795.1:c.2227T>C	ENSP00000507574.1:p.Ser743Pro
ENST00000682895.1:n.1796T>C
ENST00000682955.1:n.1654T>C
ENST00000683188.1:c.2341T>C
ENST00000683380.1:n.1744T>C
ENST00000683907.1:c.345T>C	ENSP00000507754.1:n.345T>C
ENST00000684259.1:n.3847T>C
ENST00000684538.1:n.1459T>C
ENST00000684549.1:n.1631T>C
ENST00000261534.9:c.2080T>C MANE Select	ENSP00000261534.4:p.Ser694Pro
ENST00000261534.8:c.2080T>C	ENSP00000261534.4:p.Ser694Pro
ENST00000452340.7:n.3056T>C
ENST00000554767.5:n.2866T>C
ENST00000555710.1:c.441T>C	ENSP00000451730.1:n.441T>C
ENST00000556394.1:c.135T>C
ENST00000556446.1:n.381T>C
ENST00000602717.5:c.295T>C	ENSP00000487704.1:p.Ser99Pro
NM_013382.5:c.2080T>C , LRG_844t1:c.2080T>C	NP_037514.2:p.Ser694Pro
XM_011536675.1:c.2269T>C	XP_011534977.1:p.Ser757Pro
XM_011536676.1:c.1936T>C	XP_011534978.1:p.Ser646Pro
XM_011536677.1:c.1810T>C	XP_011534979.1:p.Ser604Pro
XM_011536679.1:c.1363T>C	XP_011534981.1:p.Ser455Pro
XR_943416.1:n.2333T>C
XM_011536675.2:c.2269T>C	XP_011534977.1:p.Ser757Pro
XM_011536676.2:c.1936T>C	XP_011534978.1:p.Ser646Pro
XM_011536677.3:c.1810T>C	XP_011534979.1:p.Ser604Pro
XR_001750279.1:n.2366T>C
XR_001750282.1:n.3019T>C
XR_943416.3:n.2331T>C
NM_013382.6:c.2080T>C	NP_037514.2:p.Ser694Pro
NM_013382.7:c.2080T>C MANE Select	NP_037514.2:p.Ser694Pro