Canonical Allele Identifier: CA390513639

Gene: POMT2

Linked Data

• dbSNP Id: rs1261034497
• MyVariant Identifiers: chr14:g.77744834G>C (hg19) ; chr14:g.77278491G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278491G>C , CM000676.2:g.77278491G>C	GRCh38
NC_000014.8:g.77744834G>C , CM000676.1:g.77744834G>C	GRCh37
NC_000014.7:g.76814587G>C	NCBI36
NG_008897.1:g.47392C>G , LRG_844:g.47392C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.975C>G
ENST00000556394.2:c.1591C>G	ENSP00000451967.2:p.Leu531Val
ENST00000682247.1:c.2039C>G	ENSP00000507213.1:p.Pro680Arg
ENST00000682395.1:n.2514C>G
ENST00000682459.1:n.1753C>G
ENST00000682467.1:c.1909C>G	ENSP00000508062.1:p.Leu637Val
ENST00000682795.1:c.2197C>G	ENSP00000507574.1:p.Leu733Val
ENST00000682895.1:n.1766C>G
ENST00000682955.1:n.1624C>G
ENST00000683188.1:c.2311C>G
ENST00000683380.1:n.1714C>G
ENST00000683907.1:c.315C>G	ENSP00000507754.1:n.315C>G
ENST00000684259.1:n.3817C>G
ENST00000684538.1:n.1429C>G
ENST00000684549.1:n.1601C>G
ENST00000261534.9:c.2050C>G MANE Select	ENSP00000261534.4:p.Leu684Val
ENST00000261534.8:c.2050C>G	ENSP00000261534.4:p.Leu684Val
ENST00000452340.7:n.3026C>G
ENST00000554767.5:n.2836C>G
ENST00000555710.1:c.411C>G	ENSP00000451730.1:n.411C>G
ENST00000556394.1:c.105C>G
ENST00000556446.1:n.351C>G
ENST00000602717.5:c.265C>G	ENSP00000487704.1:p.Leu89Val
NM_013382.5:c.2050C>G , LRG_844t1:c.2050C>G	NP_037514.2:p.Leu684Val
XM_011536675.1:c.2239C>G	XP_011534977.1:p.Leu747Val
XM_011536676.1:c.1906C>G	XP_011534978.1:p.Leu636Val
XM_011536677.1:c.1780C>G	XP_011534979.1:p.Leu594Val
XM_011536679.1:c.1333C>G	XP_011534981.1:p.Leu445Val
XR_943416.1:n.2303C>G
XM_011536675.2:c.2239C>G	XP_011534977.1:p.Leu747Val
XM_011536676.2:c.1906C>G	XP_011534978.1:p.Leu636Val
XM_011536677.3:c.1780C>G	XP_011534979.1:p.Leu594Val
XR_001750279.1:n.2336C>G
XR_001750282.1:n.2989C>G
XR_943416.3:n.2301C>G
NM_013382.6:c.2050C>G	NP_037514.2:p.Leu684Val
NM_013382.7:c.2050C>G MANE Select	NP_037514.2:p.Leu684Val