Canonical Allele Identifier: CA242005048

Gene: SOCS2

Linked Data

• dbSNP Id: rs148412489
• gnomAD v2: 12-93979952-C-T
• gnomAD v3: 12-93586176-C-T
• gnomAD v4: 12-93586176-C-T
• MyVariant Identifiers: chr12:g.93979952C>T (hg19) ; chr12:g.93586176C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.93586176C>T , CM000674.2:g.93586176C>T	GRCh38
NC_000012.11:g.93979952C>T , CM000674.1:g.93979952C>T	GRCh37
NC_000012.10:g.92504083C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_005269213.3:c.*417C>T	XP_005269270.2:n.*417C>T
XM_006719673.1:c.*417C>T	XP_006719736.1:n.*417C>T
XM_006719674.1:c.*417C>T	XP_006719737.1:n.*417C>T
XM_011538929.1:c.*417C>T	XP_011537231.1:n.*417C>T
XM_011538930.1:c.*417C>T	XP_011537232.1:n.*417C>T
XM_011538931.1:c.*417C>T	XP_011537233.1:n.*417C>T
XM_011538932.1:c.*417C>T	XP_011537234.1:n.*417C>T
XM_011538933.1:c.*417C>T	XP_011537235.1:n.*417C>T
XM_011538934.1:c.*417C>T	XP_011537236.1:n.*417C>T
XM_011538935.1:c.591+11003C>T	XP_011537237.1:n.591+11003C>T
XR_944810.1:n.1761C>T