Canonical Allele Identifier: CA390513539

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744808C>G (hg19) ; chr14:g.77278465C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278465C>G , CM000676.2:g.77278465C>G	GRCh38
NC_000014.8:g.77744808C>G , CM000676.1:g.77744808C>G	GRCh37
NC_000014.7:g.76814561C>G	NCBI36
NG_008897.1:g.47418G>C , LRG_844:g.47418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1001G>C
ENST00000556394.2:c.1617G>C	ENSP00000451967.2:p.Leu539Phe
ENST00000682247.1:c.2065G>C	ENSP00000507213.1:p.Gly689Arg
ENST00000682395.1:n.2540G>C
ENST00000682459.1:n.1779G>C
ENST00000682467.1:c.1935G>C	ENSP00000508062.1:p.Leu645Phe
ENST00000682795.1:c.2223G>C	ENSP00000507574.1:p.Leu741Phe
ENST00000682895.1:n.1792G>C
ENST00000682955.1:n.1650G>C
ENST00000683188.1:c.2337G>C
ENST00000683380.1:n.1740G>C
ENST00000683907.1:c.341G>C	ENSP00000507754.1:n.341G>C
ENST00000684259.1:n.3843G>C
ENST00000684538.1:n.1455G>C
ENST00000684549.1:n.1627G>C
ENST00000261534.9:c.2076G>C MANE Select	ENSP00000261534.4:p.Leu692Phe
ENST00000261534.8:c.2076G>C	ENSP00000261534.4:p.Leu692Phe
ENST00000452340.7:n.3052G>C
ENST00000554767.5:n.2862G>C
ENST00000555710.1:c.437G>C	ENSP00000451730.1:n.437G>C
ENST00000556394.1:c.131G>C
ENST00000556446.1:n.377G>C
ENST00000602717.5:c.291G>C	ENSP00000487704.1:p.Leu97Phe
NM_013382.5:c.2076G>C , LRG_844t1:c.2076G>C	NP_037514.2:p.Leu692Phe
XM_011536675.1:c.2265G>C	XP_011534977.1:p.Leu755Phe
XM_011536676.1:c.1932G>C	XP_011534978.1:p.Leu644Phe
XM_011536677.1:c.1806G>C	XP_011534979.1:p.Leu602Phe
XM_011536679.1:c.1359G>C	XP_011534981.1:p.Leu453Phe
XR_943416.1:n.2329G>C
XM_011536675.2:c.2265G>C	XP_011534977.1:p.Leu755Phe
XM_011536676.2:c.1932G>C	XP_011534978.1:p.Leu644Phe
XM_011536677.3:c.1806G>C	XP_011534979.1:p.Leu602Phe
XR_001750279.1:n.2362G>C
XR_001750282.1:n.3015G>C
XR_943416.3:n.2327G>C
NM_013382.6:c.2076G>C	NP_037514.2:p.Leu692Phe
NM_013382.7:c.2076G>C MANE Select	NP_037514.2:p.Leu692Phe