Canonical Allele Identifier: CA10633087

Gene: SLC11A2

Linked Data

• ClinVar Variation Id: 309316
• ClinVar RCV Id: RCV000292543
• dbSNP Id: rs886049567
• gnomAD v2: 12-51392985-G-A
• gnomAD v4: 12-50999202-G-A
• MyVariant Identifiers: chr12:g.51392985G>A (hg19) ; chr12:g.50999202G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50999202G>A , CM000674.2:g.50999202G>A	GRCh38
NC_000012.11:g.51392985G>A , CM000674.1:g.51392985G>A	GRCh37
NC_000012.10:g.49679252G>A	NCBI36
NG_021139.1:g.34074C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394904.9:c.734C>T	ENSP00000378364.3:p.Thr245Ile
ENST00000545993.7:c.635C>T	ENSP00000442810.2:p.Thr212Ile
ENST00000547688.7:c.734C>T	ENSP00000449200.2:p.Thr245Ile
ENST00000642227.1:c.*232C>T	ENSP00000494696.1:n.*232C>T
ENST00000643123.1:n.43-4572C>T
ENST00000643884.1:c.683C>T	ENSP00000493633.1:p.Thr228Ile
ENST00000644495.1:c.647C>T	ENSP00000494107.1:p.Thr216Ile
ENST00000646264.1:c.217C>T
ENST00000646740.1:c.647C>T	ENSP00000494001.1:p.Thr216Ile
ENST00000262051.11:c.647C>T	ENSP00000262051.7:p.Thr216Ile
ENST00000262052.9:c.647C>T MANE Select	ENSP00000262052.5:p.Thr216Ile
ENST00000394904.7:c.734C>T	ENSP00000378364.3:p.Thr245Ile
ENST00000541174.6:c.647C>T	ENSP00000444542.2:p.Thr216Ile
ENST00000545993.6:c.635C>T	ENSP00000442810.2:p.Thr212Ile
ENST00000546488.5:c.401C>T	ENSP00000450389.1:p.Thr134Ile
ENST00000546636.5:c.647C>T	ENSP00000449008.1:p.Thr216Ile
ENST00000546743.5:c.410C>T	ENSP00000446914.1:p.Thr137Ile
ENST00000547198.5:c.647C>T	ENSP00000446769.1:p.Thr216Ile
ENST00000547510.5:c.*450C>T	ENSP00000446653.1:n.*450C>T
ENST00000547579.5:c.410C>T	ENSP00000447482.1:p.Thr137Ile
ENST00000547688.5:c.734C>T	ENSP00000449200.1:p.Thr245Ile
ENST00000550061.1:n.364C>T
NM_000617.2:c.647C>T	NP_000608.1:p.Thr216Ile
NM_001174125.1:c.734C>T	NP_001167596.1:p.Thr245Ile
NM_001174126.1:c.647C>T	NP_001167597.1:p.Thr216Ile
NM_001174127.1:c.647C>T	NP_001167598.1:p.Thr216Ile
NM_001174128.1:c.647C>T	NP_001167599.1:p.Thr216Ile
NM_001174129.1:c.647C>T	NP_001167600.1:p.Thr216Ile
NM_001174130.1:c.635C>T	NP_001167601.1:p.Thr212Ile
NR_033421.1:n.712C>T
NR_033422.1:n.787C>T
XM_005268911.2:c.734C>T	XP_005268968.1:p.Thr245Ile
XM_005268912.3:c.635C>T	XP_005268969.1:p.Thr212Ile
XM_005268913.2:c.536C>T	XP_005268970.1:p.Thr179Ile
XM_005268914.2:c.536C>T	XP_005268971.1:p.Thr179Ile
XM_011538404.1:c.647C>T	XP_011536706.1:p.Thr216Ile
XM_011538405.1:c.647C>T	XP_011536707.1:p.Thr216Ile
XM_011538406.1:c.410C>T	XP_011536708.1:p.Thr137Ile
XR_429104.1:n.844C>T
XR_944555.1:n.844C>T
XM_005268911.3:c.734C>T	XP_005268968.1:p.Thr245Ile
XM_005268912.5:c.635C>T	XP_005268969.1:p.Thr212Ile
XM_011538404.3:c.647C>T	XP_011536706.1:p.Thr216Ile
XM_011538405.3:c.647C>T	XP_011536707.1:p.Thr216Ile
XM_017019355.2:c.647C>T	XP_016874844.1:p.Thr216Ile
XM_017019356.2:c.410C>T	XP_016874845.1:p.Thr137Ile
XR_001748720.1:n.844C>T
XR_001748721.2:n.762C>T
XR_001748722.2:n.770C>T
XR_001748723.2:n.770C>T
NM_000617.3:c.647C>T MANE Select	NP_000608.1:p.Thr216Ile
NM_001174125.2:c.734C>T	NP_001167596.1:p.Thr245Ile
NM_001174128.2:c.647C>T	NP_001167599.1:p.Thr216Ile
NM_001174130.2:c.635C>T	NP_001167601.1:p.Thr212Ile
NR_033421.2:n.680C>T
NR_033422.2:n.755C>T
NM_001174126.2:c.647C>T	NP_001167597.1:p.Thr216Ile
NM_001174127.2:c.647C>T	NP_001167598.1:p.Thr216Ile
NM_001379446.1:c.734C>T	NP_001366375.1:p.Thr245Ile
NM_001379447.1:c.647C>T	NP_001366376.1:p.Thr216Ile
NM_001379448.1:c.635C>T	NP_001366377.1:p.Thr212Ile
NM_001379455.1:c.734C>T	NP_001366384.1:p.Thr245Ile
NR_166668.1:n.760C>T
NR_166669.1:n.755C>T
NR_166670.1:n.760C>T