Canonical Allele Identifier: CA371094988

Gene: SLC20A2

Linked Data

• MyVariant Identifiers: chr8:g.42286289G>A (hg19) ; chr8:g.42428771G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42428771G>A , CM000670.2:g.42428771G>A	GRCh38
NC_000008.10:g.42286289G>A , CM000670.1:g.42286289G>A	GRCh37
NC_000008.9:g.42405446G>A	NCBI36
NG_032161.1:g.116068C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000520262.6:c.1781C>T MANE Select	ENSP00000429754.1:p.Thr594Ile
ENST00000342228.7:c.1781C>T	ENSP00000340465.3:p.Thr594Ile
ENST00000520179.5:c.1781C>T	ENSP00000429712.1:p.Thr594Ile
ENST00000520262.5:c.1781C>T	ENSP00000429754.1:p.Thr594Ile
NM_001257180.1:c.1781C>T	NP_001244109.1:p.Thr594Ile
NM_001257181.1:c.1781C>T	NP_001244110.1:p.Thr594Ile
NM_006749.4:c.1781C>T	NP_006740.1:p.Thr594Ile
XM_005273613.2:c.1781C>T	XP_005273670.1:p.Thr594Ile
XM_005273615.2:c.1781C>T	XP_005273672.1:p.Thr594Ile
XM_006716390.2:c.1640C>T	XP_006716453.1:p.Thr547Ile
XM_006716391.2:c.1370C>T	XP_006716454.1:p.Thr457Ile
XM_005273613.4:c.1781C>T	XP_005273670.1:p.Thr594Ile
XM_005273615.4:c.1781C>T	XP_005273672.1:p.Thr594Ile
XM_006716390.4:c.1640C>T	XP_006716453.1:p.Thr547Ile
XM_006716391.4:c.1370C>T	XP_006716454.1:p.Thr457Ile
XM_017013748.1:c.1781C>T	XP_016869237.1:p.Thr594Ile
XM_017013749.2:c.1640C>T	XP_016869238.1:p.Thr547Ile
XM_017013750.2:c.1370C>T	XP_016869239.1:p.Thr457Ile
XM_017013751.2:c.1370C>T	XP_016869240.1:p.Thr457Ile
XM_017013752.2:c.1370C>T	XP_016869241.1:p.Thr457Ile
XM_024447235.1:c.1781C>T	XP_024303003.1:p.Thr594Ile
XM_024447236.1:c.1781C>T	XP_024303004.1:p.Thr594Ile
XM_024447237.1:c.1640C>T	XP_024303005.1:p.Thr547Ile
NM_001257180.2:c.1781C>T MANE Select	NP_001244109.1:p.Thr594Ile
NM_006749.5:c.1781C>T	NP_006740.1:p.Thr594Ile
NM_001257181.2:c.1781C>T	NP_001244110.1:p.Thr594Ile