Canonical Allele Identifier: CA390517688

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753114C>A (hg19) ; chr14:g.77286771C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286771C>A , CM000676.2:g.77286771C>A	GRCh38
NC_000014.8:g.77753114C>A , CM000676.1:g.77753114C>A	GRCh37
NC_000014.7:g.76822867C>A	NCBI36
NG_008897.1:g.39112G>T , LRG_844:g.39112G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.846G>T	ENSP00000451967.2:p.Lys282Asn
ENST00000682247.1:c.1305G>T	ENSP00000507213.1:p.Lys435Asn
ENST00000682382.1:c.877G>T
ENST00000682395.1:n.1483G>T
ENST00000682459.1:n.1008G>T
ENST00000682467.1:c.1305G>T	ENSP00000508062.1:p.Lys435Asn
ENST00000682706.1:n.82G>T
ENST00000682795.1:c.1305G>T	ENSP00000507574.1:p.Lys435Asn
ENST00000682895.1:n.1021G>T
ENST00000682955.1:n.593G>T
ENST00000683188.1:c.1280G>T
ENST00000683328.1:c.298G>T	ENSP00000508096.1:n.298G>T
ENST00000683380.1:n.969G>T
ENST00000683828.1:c.1014G>T
ENST00000684259.1:n.1156G>T
ENST00000684444.1:c.52G>T
ENST00000684549.1:n.856G>T
ENST00000261534.9:c.1305G>T MANE Select	ENSP00000261534.4:p.Lys435Asn
ENST00000261534.8:c.1305G>T	ENSP00000261534.4:p.Lys435Asn
ENST00000452340.7:n.1328G>T
ENST00000553880.5:n.176G>T
ENST00000554767.5:n.2091G>T
ENST00000554884.5:n.297G>T
ENST00000556404.1:n.439G>T
ENST00000556851.1:n.341G>T
ENST00000557675.5:n.395G>T
NM_013382.5:c.1305G>T , LRG_844t1:c.1305G>T	NP_037514.2:p.Lys435Asn
XM_011536675.1:c.1305G>T	XP_011534977.1:p.Lys435Asn
XM_011536676.1:c.972G>T	XP_011534978.1:p.Lys324Asn
XM_011536677.1:c.846G>T	XP_011534979.1:p.Lys282Asn
XM_011536678.1:c.1305G>T	XP_011534980.1:p.Lys435Asn
XM_011536679.1:c.399G>T	XP_011534981.1:p.Lys133Asn
XR_943416.1:n.1508G>T
XM_011536675.2:c.1305G>T	XP_011534977.1:p.Lys435Asn
XM_011536676.2:c.972G>T	XP_011534978.1:p.Lys324Asn
XM_011536677.3:c.846G>T	XP_011534979.1:p.Lys282Asn
XR_001750279.1:n.1505G>T
XR_001750282.1:n.1958G>T
XR_943416.3:n.1506G>T
NM_013382.6:c.1305G>T	NP_037514.2:p.Lys435Asn
NM_013382.7:c.1305G>T MANE Select	NP_037514.2:p.Lys435Asn