Canonical Allele Identifier: CA371095111

Gene: SLC20A2

Linked Data

• ClinVar Variation Id: 522850
• ClinVar RCV Id: RCV000626025
• dbSNP Id: rs387906653
• MyVariant Identifiers: chr8:g.42286347C>A (hg19) ; chr8:g.42428829C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42428829C>A , CM000670.2:g.42428829C>A	GRCh38
NC_000008.10:g.42286347C>A , CM000670.1:g.42286347C>A	GRCh37
NC_000008.9:g.42405504C>A	NCBI36
NG_032161.1:g.116010G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520262.6:c.1723G>T MANE Select	ENSP00000429754.1:p.Glu575Ter
ENST00000342228.7:c.1723G>T	ENSP00000340465.3:p.Glu575Ter
ENST00000520179.5:c.1723G>T	ENSP00000429712.1:p.Glu575Ter
ENST00000520262.5:c.1723G>T	ENSP00000429754.1:p.Glu575Ter
NM_001257180.1:c.1723G>T	NP_001244109.1:p.Glu575Ter
NM_001257181.1:c.1723G>T	NP_001244110.1:p.Glu575Ter
NM_006749.4:c.1723G>T	NP_006740.1:p.Glu575Ter
XM_005273613.2:c.1723G>T	XP_005273670.1:p.Glu575Ter
XM_005273615.2:c.1723G>T	XP_005273672.1:p.Glu575Ter
XM_006716390.2:c.1582G>T	XP_006716453.1:p.Glu528Ter
XM_006716391.2:c.1312G>T	XP_006716454.1:p.Glu438Ter
XM_005273613.4:c.1723G>T	XP_005273670.1:p.Glu575Ter
XM_005273615.4:c.1723G>T	XP_005273672.1:p.Glu575Ter
XM_006716390.4:c.1582G>T	XP_006716453.1:p.Glu528Ter
XM_006716391.4:c.1312G>T	XP_006716454.1:p.Glu438Ter
XM_017013748.1:c.1723G>T	XP_016869237.1:p.Glu575Ter
XM_017013749.2:c.1582G>T	XP_016869238.1:p.Glu528Ter
XM_017013750.2:c.1312G>T	XP_016869239.1:p.Glu438Ter
XM_017013751.2:c.1312G>T	XP_016869240.1:p.Glu438Ter
XM_017013752.2:c.1312G>T	XP_016869241.1:p.Glu438Ter
XM_024447235.1:c.1723G>T	XP_024303003.1:p.Glu575Ter
XM_024447236.1:c.1723G>T	XP_024303004.1:p.Glu575Ter
XM_024447237.1:c.1582G>T	XP_024303005.1:p.Glu528Ter
NM_001257180.2:c.1723G>T MANE Select	NP_001244109.1:p.Glu575Ter
NM_006749.5:c.1723G>T	NP_006740.1:p.Glu575Ter
NM_001257181.2:c.1723G>T	NP_001244110.1:p.Glu575Ter