Canonical Allele Identifier: CA487509374

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2949522
• ClinVar RCV Id: RCV003804688
• gnomAD v4: 14-77278467-A-G
• MyVariant Identifiers: chr14:g.77744810A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278467A>G , CM000676.2:g.77278467A>G	GRCh38
NC_000014.8:g.77744810A>G , CM000676.1:g.77744810A>G	GRCh37
NC_000014.7:g.76814563A>G	NCBI36
NG_008897.1:g.47416T>C , LRG_844:g.47416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.999T>C
ENST00000556394.2:c.1615T>C	ENSP00000451967.2:p.Leu539=
ENST00000682247.1:c.2063T>C	ENSP00000507213.1:p.Leu688Pro
ENST00000682395.1:n.2538T>C
ENST00000682459.1:n.1777T>C
ENST00000682467.1:c.1933T>C	ENSP00000508062.1:p.Leu645=
ENST00000682795.1:c.2221T>C	ENSP00000507574.1:p.Leu741=
ENST00000682895.1:n.1790T>C
ENST00000682955.1:n.1648T>C
ENST00000683188.1:c.2335T>C
ENST00000683380.1:n.1738T>C
ENST00000683907.1:c.339T>C	ENSP00000507754.1:n.339T>C
ENST00000684259.1:n.3841T>C
ENST00000684538.1:n.1453T>C
ENST00000684549.1:n.1625T>C
ENST00000261534.9:c.2074T>C MANE Select	ENSP00000261534.4:p.Leu692=
ENST00000261534.8:c.2074T>C	ENSP00000261534.4:p.Leu692=
ENST00000452340.7:n.3050T>C
ENST00000554767.5:n.2860T>C
ENST00000555710.1:c.435T>C	ENSP00000451730.1:n.435T>C
ENST00000556394.1:c.129T>C
ENST00000556446.1:n.375T>C
ENST00000602717.5:c.289T>C	ENSP00000487704.1:p.Leu97=
NM_013382.5:c.2074T>C , LRG_844t1:c.2074T>C	NP_037514.2:p.Leu692=
XM_011536675.1:c.2263T>C	XP_011534977.1:p.Leu755=
XM_011536676.1:c.1930T>C	XP_011534978.1:p.Leu644=
XM_011536677.1:c.1804T>C	XP_011534979.1:p.Leu602=
XM_011536679.1:c.1357T>C	XP_011534981.1:p.Leu453=
XR_943416.1:n.2327T>C
XM_011536675.2:c.2263T>C	XP_011534977.1:p.Leu755=
XM_011536676.2:c.1930T>C	XP_011534978.1:p.Leu644=
XM_011536677.3:c.1804T>C	XP_011534979.1:p.Leu602=
XR_001750279.1:n.2360T>C
XR_001750282.1:n.3013T>C
XR_943416.3:n.2325T>C
NM_013382.6:c.2074T>C	NP_037514.2:p.Leu692=
NM_013382.7:c.2074T>C MANE Select	NP_037514.2:p.Leu692=