Canonical Allele Identifier: CA1221568536

Gene: TGFB2

Linked Data

• dbSNP Id: rs1660154728
• gnomAD v4: 1-218441602-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441609_218441610del , CM000663.2:g.218441609_218441610del	GRCh38
NC_000001.10:g.218614951_218614952del , CM000663.1:g.218614951_218614952del	GRCh37
NC_000001.9:g.216681574_216681575del	NCBI36
NG_027721.1:g.101276_101277del
NG_027721.2:g.101276_101277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.*247_*248del MANE Select	ENSP00000355897.4:n.*247_*248del
ENST00000366929.4:c.*247_*248del	ENSP00000355896.4:n.*247_*248del
ENST00000366930.8:c.*247_*248del	ENSP00000355897.4:n.*247_*248del
ENST00000479322.1:n.976_977del
NM_001135599.2:c.*247_*248del	NP_001129071.1:n.*247_*248del
NM_003238.3:c.*247_*248del	NP_003229.1:n.*247_*248del
NM_001135599.3:c.*247_*248del	NP_001129071.1:n.*247_*248del
NM_003238.4:c.*247_*248del	NP_003229.1:n.*247_*248del
NR_138148.1:n.2795_2796del
NR_138149.1:n.2879_2880del
NM_003238.5:c.*247_*248del	NP_003229.1:n.*247_*248del
NM_003238.6:c.*247_*248del MANE Select	NP_003229.1:n.*247_*248del
NM_001135599.4:c.*247_*248del	NP_001129071.1:n.*247_*248del
NR_138148.2:n.2743_2744del
NR_138149.2:n.2827_2828del