Canonical Allele Identifier: CA37543327

Gene: TGFB2

Linked Data

• dbSNP Id: rs1021958020
• gnomAD v3: 1-218345688-C-T
• gnomAD v4: 1-218345688-C-T
• MyVariant Identifiers: chr1:g.218519030C>T (hg19) ; chr1:g.218345688C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218345688C>T , CM000663.2:g.218345688C>T	GRCh38
NC_000001.10:g.218519030C>T , CM000663.1:g.218519030C>T	GRCh37
NC_000001.9:g.216585653C>T	NCBI36
NG_027721.1:g.5355C>T
NG_027721.2:g.5355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.-1014C>T MANE Select	ENSP00000355897.4:n.-1014C>T
NM_001135599.2:c.-1014C>T	NP_001129071.1:n.-1014C>T
NM_003238.3:c.-1014C>T	NP_003229.1:n.-1014C>T
NM_001135599.3:c.-1014C>T	NP_001129071.1:n.-1014C>T
NM_003238.4:c.-1014C>T	NP_003229.1:n.-1014C>T
NR_138148.1:n.405C>T
NR_138149.1:n.405C>T
NM_003238.5:c.-1014C>T	NP_003229.1:n.-1014C>T
NM_003238.6:c.-1014C>T MANE Select	NP_003229.1:n.-1014C>T
NM_001135599.4:c.-1014C>T	NP_001129071.1:n.-1014C>T
NR_138148.2:n.353C>T
NR_138149.2:n.353C>T