Canonical Allele Identifier: CA4733435

Gene: SLC20A2

Linked Data

• ClinVar Variation Id: 363080
• ClinVar RCV Id: RCV000372995 ; RCV001580040 ; RCV001522227
• dbSNP Id: rs73675069
• ExAC: 8:42296992 C / T
• gnomAD v2: 8-42296992-C-T
• gnomAD v3: 8-42439474-C-T
• gnomAD v4: 8-42439474-C-T
• MyVariant Identifiers: chr8:g.42296992C>T (hg19) ; chr8:g.42439474C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.42439474C>T , CM000670.2:g.42439474C>T	GRCh38
NC_000008.10:g.42296992C>T , CM000670.1:g.42296992C>T	GRCh37
NC_000008.9:g.42416149C>T	NCBI36
NG_032161.1:g.105365G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000520262.6:c.910G>A MANE Select	ENSP00000429754.1:p.Gly304Ser
ENST00000342228.7:c.910G>A	ENSP00000340465.3:p.Gly304Ser
ENST00000518660.5:n.636G>A
ENST00000520179.5:c.910G>A	ENSP00000429712.1:p.Gly304Ser
ENST00000520262.5:c.910G>A	ENSP00000429754.1:p.Gly304Ser
ENST00000522401.1:n.570G>A
NM_001257180.1:c.910G>A	NP_001244109.1:p.Gly304Ser
NM_001257181.1:c.910G>A	NP_001244110.1:p.Gly304Ser
NM_006749.4:c.910G>A	NP_006740.1:p.Gly304Ser
XM_005273613.2:c.910G>A	XP_005273670.1:p.Gly304Ser
XM_005273615.2:c.910G>A	XP_005273672.1:p.Gly304Ser
XM_006716390.2:c.769G>A	XP_006716453.1:p.Gly257Ser
XM_006716391.2:c.499G>A	XP_006716454.1:p.Gly167Ser
XM_005273613.4:c.910G>A	XP_005273670.1:p.Gly304Ser
XM_005273615.4:c.910G>A	XP_005273672.1:p.Gly304Ser
XM_006716390.4:c.769G>A	XP_006716453.1:p.Gly257Ser
XM_006716391.4:c.499G>A	XP_006716454.1:p.Gly167Ser
XM_017013748.1:c.910G>A	XP_016869237.1:p.Gly304Ser
XM_017013749.2:c.769G>A	XP_016869238.1:p.Gly257Ser
XM_017013750.2:c.499G>A	XP_016869239.1:p.Gly167Ser
XM_017013751.2:c.499G>A	XP_016869240.1:p.Gly167Ser
XM_017013752.2:c.499G>A	XP_016869241.1:p.Gly167Ser
XM_024447235.1:c.910G>A	XP_024303003.1:p.Gly304Ser
XM_024447236.1:c.910G>A	XP_024303004.1:p.Gly304Ser
XM_024447237.1:c.769G>A	XP_024303005.1:p.Gly257Ser
NM_001257180.2:c.910G>A MANE Select	NP_001244109.1:p.Gly304Ser
NM_006749.5:c.910G>A	NP_006740.1:p.Gly304Ser
NM_001257181.2:c.910G>A	NP_001244110.1:p.Gly304Ser