Canonical Allele Identifier: CA390518950

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77291367A>C , CM000676.2:g.77291367A>C	GRCh38
NC_000014.8:g.77757710A>C , CM000676.1:g.77757710A>C	GRCh37
NC_000014.7:g.76827463A>C	NCBI36
NG_008897.1:g.34516T>G , LRG_844:g.34516T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1130T>G MANE Select	NP_037514.2:p.Leu377Trp
ENST00000261534.9:c.1130T>G MANE Select	ENSP00000261534.4:p.Leu377Trp
NM_013382.5:c.1130T>G , LRG_844t1:c.1130T>G	NP_037514.2:p.Leu377Trp
NM_013382.6:c.1130T>G	NP_037514.2:p.Leu377Trp
ENST00000261534.8:c.1130T>G	ENSP00000261534.4:p.Leu377Trp
ENST00000452340.7:n.1153T>G
ENST00000553880.5:n.1T>G
ENST00000554767.5:n.1916T>G
ENST00000556394.2:c.671T>G	ENSP00000451967.2:p.Leu224Trp
ENST00000556851.1:n.127T>G
ENST00000557675.5:n.220T>G
ENST00000682247.1:c.1130T>G	ENSP00000507213.1:p.Leu377Trp
ENST00000682382.1:c.702T>G
ENST00000682395.1:n.859T>G
ENST00000682459.1:n.794T>G
ENST00000682467.1:c.1130T>G	ENSP00000508062.1:p.Leu377Trp
ENST00000682795.1:c.1130T>G	ENSP00000507574.1:p.Leu377Trp
ENST00000682895.1:n.846T>G
ENST00000682955.1:n.418T>G
ENST00000683188.1:c.656T>G
ENST00000683285.1:c.275T>G
ENST00000683328.1:c.123T>G	ENSP00000508096.1:p.Phe41Leu
ENST00000683380.1:n.794T>G
ENST00000683828.1:c.839T>G
ENST00000684259.1:n.981T>G
ENST00000684528.1:c.645T>G
ENST00000684549.1:n.681T>G
XM_011536675.1:c.1130T>G	XP_011534977.1:p.Leu377Trp
XM_011536675.2:c.1130T>G	XP_011534977.1:p.Leu377Trp
XM_011536676.1:c.797T>G	XP_011534978.1:p.Leu266Trp
XM_011536676.2:c.797T>G	XP_011534978.1:p.Leu266Trp
XM_011536677.1:c.671T>G	XP_011534979.1:p.Leu224Trp
XM_011536677.3:c.671T>G	XP_011534979.1:p.Leu224Trp
XM_011536678.1:c.1130T>G	XP_011534980.1:p.Leu377Trp
XM_011536679.1:c.224T>G	XP_011534981.1:p.Leu75Trp
XM_011536680.1:c.1130T>G	XP_011534982.1:p.Leu377Trp
XR_001750279.1:n.1330T>G
XR_001750282.1:n.1334T>G
XR_943416.1:n.1333T>G
XR_943416.3:n.1331T>G