Canonical Allele Identifier: CA6566435

Gene: SLC11A2

Linked Data

• ClinVar Variation Id: 309305
• ClinVar RCV Id: RCV000298296
• dbSNP Id: rs760783598
• ExAC: 12:51382198 T / G
• gnomAD v2: 12-51382198-T-G
• gnomAD v3: 12-50988415-T-G
• gnomAD v4: 12-50988415-T-G
• MyVariant Identifiers: chr12:g.51382198T>G (hg19) ; chr12:g.50988415T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50988415T>G , CM000674.2:g.50988415T>G	GRCh38
NC_000012.11:g.51382198T>G , CM000674.1:g.51382198T>G	GRCh37
NC_000012.10:g.49668465T>G	NCBI36
NG_021139.1:g.44861A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394904.9:c.1683A>C	ENSP00000378364.3:p.Ala561=
ENST00000545993.7:c.1584A>C	ENSP00000442810.2:p.Ala528=
ENST00000547688.7:c.1683A>C	ENSP00000449200.2:p.Ala561=
ENST00000642227.1:c.*1181A>C	ENSP00000494696.1:n.*1181A>C
ENST00000643123.1:n.760A>C
ENST00000643884.1:c.1632A>C	ENSP00000493633.1:p.Ala544=
ENST00000644495.1:c.1596A>C	ENSP00000494107.1:p.Ala532=
ENST00000646264.1:c.1278A>C
ENST00000646740.1:c.*882A>C	ENSP00000494001.1:n.*882A>C
ENST00000262051.11:c.1596A>C	ENSP00000262051.7:p.Ala532=
ENST00000262052.9:c.1596A>C MANE Select	ENSP00000262052.5:p.Ala532=
ENST00000394904.7:c.1683A>C	ENSP00000378364.3:p.Ala561=
ENST00000541174.6:c.1596A>C	ENSP00000444542.2:p.Ala532=
ENST00000545993.6:c.1584A>C	ENSP00000442810.2:p.Ala528=
ENST00000546636.5:c.1596A>C	ENSP00000449008.1:p.Ala532=
ENST00000546743.5:c.1359A>C	ENSP00000446914.1:p.Ala453=
ENST00000547198.5:c.1596A>C	ENSP00000446769.1:p.Ala532=
ENST00000547688.5:c.1683A>C	ENSP00000449200.1:p.Ala561=
ENST00000550782.5:n.1068A>C
ENST00000551215.5:c.269A>C
NM_000617.2:c.1596A>C	NP_000608.1:p.Ala532=
NM_001174125.1:c.1683A>C	NP_001167596.1:p.Ala561=
NM_001174126.1:c.1596A>C	NP_001167597.1:p.Ala532=
NM_001174127.1:c.1596A>C	NP_001167598.1:p.Ala532=
NM_001174128.1:c.1596A>C	NP_001167599.1:p.Ala532=
NM_001174129.1:c.1596A>C	NP_001167600.1:p.Ala532=
NM_001174130.1:c.1584A>C	NP_001167601.1:p.Ala528=
NR_033421.1:n.1661A>C
NR_033422.1:n.1736A>C
XM_005268911.2:c.1683A>C	XP_005268968.1:p.Ala561=
XM_005268912.3:c.1584A>C	XP_005268969.1:p.Ala528=
XM_005268913.2:c.1485A>C	XP_005268970.1:p.Ala495=
XM_005268914.2:c.1485A>C	XP_005268971.1:p.Ala495=
XM_011538404.1:c.1596A>C	XP_011536706.1:p.Ala532=
XM_011538405.1:c.1596A>C	XP_011536707.1:p.Ala532=
XM_011538406.1:c.1359A>C	XP_011536708.1:p.Ala453=
XR_429104.1:n.1793A>C
XR_944555.1:n.1793A>C
XM_005268911.3:c.1683A>C	XP_005268968.1:p.Ala561=
XM_005268912.5:c.1584A>C	XP_005268969.1:p.Ala528=
XM_011538404.3:c.1596A>C	XP_011536706.1:p.Ala532=
XM_011538405.3:c.1596A>C	XP_011536707.1:p.Ala532=
XM_017019355.2:c.1596A>C	XP_016874844.1:p.Ala532=
XM_017019356.2:c.1359A>C	XP_016874845.1:p.Ala453=
XR_001748720.1:n.1793A>C
XR_001748721.2:n.1711A>C
XR_001748722.2:n.1719A>C
XR_001748723.2:n.1719A>C
NM_000617.3:c.1596A>C MANE Select	NP_000608.1:p.Ala532=
NM_001174125.2:c.1683A>C	NP_001167596.1:p.Ala561=
NM_001174128.2:c.1596A>C	NP_001167599.1:p.Ala532=
NM_001174130.2:c.1584A>C	NP_001167601.1:p.Ala528=
NR_033421.2:n.1629A>C
NR_033422.2:n.1704A>C
NM_001174126.2:c.1596A>C	NP_001167597.1:p.Ala532=
NM_001174127.2:c.1596A>C	NP_001167598.1:p.Ala532=
NM_001379446.1:c.1683A>C	NP_001366375.1:p.Ala561=
NM_001379447.1:c.1596A>C	NP_001366376.1:p.Ala532=
NM_001379448.1:c.1584A>C	NP_001366377.1:p.Ala528=
NM_001379455.1:c.1683A>C	NP_001366384.1:p.Ala561=
NR_166668.1:n.1709A>C
NR_166669.1:n.1704A>C
NR_166670.1:n.1709A>C