Canonical Allele Identifier: CA6566323

Gene: SLC11A2

Linked Data

• ClinVar Variation Id: 309276
• ClinVar RCV Id: RCV000282206
• dbSNP Id: rs141968385
• ExAC: 12:51379787 AT / A
• gnomAD v2: 12-51379787-AT-A
• gnomAD v3: 12-50986004-AT-A
• gnomAD v4: 12-50986004-AT-A
• MyVariant Identifiers: chr12:g.51379788del (hg19) ; chr12:g.50986005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50986013del , CM000674.2:g.50986013del	GRCh38
NC_000012.11:g.51379796del , CM000674.1:g.51379796del	GRCh37
NC_000012.10:g.49666063del	NCBI36
NG_021139.1:g.47271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394904.9:c.*2320del	ENSP00000378364.3:n.*2320del
ENST00000547688.7:c.1716+2377del	ENSP00000449200.2:n.1716+2377del
ENST00000643884.1:c.*25+2295del	ENSP00000493633.1:n.*25+2295del
ENST00000644495.1:c.1629+2377del	ENSP00000494107.1:n.1629+2377del
ENST00000646264.1:c.1311+2377del
ENST00000262051.11:c.1629+2377del	ENSP00000262051.7:n.1629+2377del
ENST00000262052.9:c.*2320del MANE Select	ENSP00000262052.5:n.*2320del
ENST00000394904.7:c.*2320del	ENSP00000378364.3:n.*2320del
ENST00000546636.5:c.1629+2377del	ENSP00000449008.1:n.1629+2377del
ENST00000547198.5:c.1629+2377del	ENSP00000446769.1:n.1629+2377del
ENST00000550782.5:n.3478del
ENST00000551215.5:c.302+2377del
NM_000617.2:c.*2320del	NP_000608.1:n.*2320del
NM_001174125.1:c.*2320del	NP_001167596.1:n.*2320del
NM_001174126.1:c.1629+2377del	NP_001167597.1:n.1629+2377del
NM_001174127.1:c.1629+2377del	NP_001167598.1:n.1629+2377del
NM_001174128.1:c.*2320del	NP_001167599.1:n.*2320del
NM_001174129.1:c.*2320del	NP_001167600.1:n.*2320del
NM_001174130.1:c.*2320del	NP_001167601.1:n.*2320del
NR_033421.1:n.4071del
NR_033422.1:n.1769+2377del
XM_005268911.2:c.1716+2377del	XP_005268968.1:n.1716+2377del
XM_005268912.3:c.1617+2377del	XP_005268969.1:n.1617+2377del
XM_005268913.2:c.1518+2377del	XP_005268970.1:n.1518+2377del
XM_005268914.2:c.1518+2377del	XP_005268971.1:n.1518+2377del
XM_011538404.1:c.1629+2377del	XP_011536706.1:n.1629+2377del
XM_011538405.1:c.1629+2377del	XP_011536707.1:n.1629+2377del
XM_011538406.1:c.1392+2377del	XP_011536708.1:n.1392+2377del
XR_429104.1:n.1826+2377del
XR_944555.1:n.1826+2377del
XM_005268911.3:c.1716+2377del	XP_005268968.1:n.1716+2377del
XM_005268912.5:c.1617+2377del	XP_005268969.1:n.1617+2377del
XM_011538404.3:c.1629+2377del	XP_011536706.1:n.1629+2377del
XM_011538405.3:c.1629+2377del	XP_011536707.1:n.1629+2377del
XM_017019355.2:c.1629+2377del	XP_016874844.1:n.1629+2377del
XM_017019356.2:c.1392+2377del	XP_016874845.1:n.1392+2377del
XR_001748720.1:n.1826+2377del
XR_001748721.2:n.1744+2377del
XR_001748722.2:n.1752+2377del
XR_001748723.2:n.1752+2377del
NM_000617.3:c.*2320del MANE Select	NP_000608.1:n.*2320del
NM_001174125.2:c.*2320del	NP_001167596.1:n.*2320del
NM_001174128.2:c.*2320del	NP_001167599.1:n.*2320del
NM_001174130.2:c.*2320del	NP_001167601.1:n.*2320del
NR_033421.2:n.4039del
NR_033422.2:n.1737+2377del
NM_001174126.2:c.1629+2377del	NP_001167597.1:n.1629+2377del
NM_001174127.2:c.1629+2377del	NP_001167598.1:n.1629+2377del
NM_001379446.1:c.1716+2377del	NP_001366375.1:n.1716+2377del
NM_001379447.1:c.1629+2377del	NP_001366376.1:n.1629+2377del
NM_001379448.1:c.1617+2377del	NP_001366377.1:n.1617+2377del
NM_001379455.1:c.*2320del	NP_001366384.1:n.*2320del
NR_166668.1:n.1742+2377del
NR_166669.1:n.1737+2377del
NR_166670.1:n.1742+2377del