Canonical Allele Identifier: CA390513546

Gene: POMT2

Linked Data

• dbSNP Id: rs1890067113
• MyVariant Identifiers: chr14:g.77744810A>C (hg19) ; chr14:g.77278467A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.999T>G
ENST00000556394.2:c.1615T>G	ENSP00000451967.2:p.Leu539Val
ENST00000682247.1:c.2063T>G	ENSP00000507213.1:p.Leu688Arg
ENST00000682395.1:n.2538T>G
ENST00000682459.1:n.1777T>G
ENST00000682467.1:c.1933T>G	ENSP00000508062.1:p.Leu645Val
ENST00000682795.1:c.2221T>G	ENSP00000507574.1:p.Leu741Val
ENST00000682895.1:n.1790T>G
ENST00000682955.1:n.1648T>G
ENST00000683188.1:c.2335T>G
ENST00000683380.1:n.1738T>G
ENST00000683907.1:c.339T>G	ENSP00000507754.1:n.339T>G
ENST00000684259.1:n.3841T>G
ENST00000684538.1:n.1453T>G
ENST00000684549.1:n.1625T>G
ENST00000261534.9:c.2074T>G MANE Select	ENSP00000261534.4:p.Leu692Val
ENST00000261534.8:c.2074T>G	ENSP00000261534.4:p.Leu692Val
ENST00000452340.7:n.3050T>G
ENST00000554767.5:n.2860T>G
ENST00000555710.1:c.435T>G	ENSP00000451730.1:n.435T>G
ENST00000556394.1:c.129T>G
ENST00000556446.1:n.375T>G
ENST00000602717.5:c.289T>G	ENSP00000487704.1:p.Leu97Val
NM_013382.5:c.2074T>G , LRG_844t1:c.2074T>G	NP_037514.2:p.Leu692Val
XM_011536675.1:c.2263T>G	XP_011534977.1:p.Leu755Val
XM_011536676.1:c.1930T>G	XP_011534978.1:p.Leu644Val
XM_011536677.1:c.1804T>G	XP_011534979.1:p.Leu602Val
XM_011536679.1:c.1357T>G	XP_011534981.1:p.Leu453Val
XR_943416.1:n.2327T>G
XM_011536675.2:c.2263T>G	XP_011534977.1:p.Leu755Val
XM_011536676.2:c.1930T>G	XP_011534978.1:p.Leu644Val
XM_011536677.3:c.1804T>G	XP_011534979.1:p.Leu602Val
XR_001750279.1:n.2360T>G
XR_001750282.1:n.3013T>G
XR_943416.3:n.2325T>G
NM_013382.6:c.2074T>G	NP_037514.2:p.Leu692Val
NM_013382.7:c.2074T>G MANE Select	NP_037514.2:p.Leu692Val