Canonical Allele Identifier: CA1012386608

Gene: TGFB2

Linked Data

• dbSNP Id: rs11285412
• gnomAD v3: 1-218437320-CTTTTT-C
• gnomAD v4: 1-218437320-CTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437333_218437337del , CM000663.2:g.218437333_218437337del	GRCh38
NC_000001.10:g.218610675_218610679del , CM000663.1:g.218610675_218610679del	GRCh37
NC_000001.9:g.216677298_216677302del	NCBI36
NG_027721.1:g.97000_97004del
NG_027721.2:g.97000_97004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.933-10_933-6del MANE Select	ENSP00000355897.4:n.933-10_933-6del
ENST00000366929.4:c.1017-10_1017-6del	ENSP00000355896.4:n.1017-10_1017-6del
ENST00000366930.8:c.933-10_933-6del	ENSP00000355897.4:n.933-10_933-6del
ENST00000479322.1:n.417-10_417-6del
NM_001135599.2:c.1017-10_1017-6del	NP_001129071.1:n.1017-10_1017-6del
NM_003238.3:c.933-10_933-6del	NP_003229.1:n.933-10_933-6del
NM_001135599.3:c.1017-10_1017-6del	NP_001129071.1:n.1017-10_1017-6del
NM_003238.4:c.933-10_933-6del	NP_003229.1:n.933-10_933-6del
NR_138148.1:n.2236-10_2236-6del
NR_138149.1:n.2320-10_2320-6del
NM_003238.5:c.933-10_933-6del	NP_003229.1:n.933-10_933-6del
NM_003238.6:c.933-10_933-6del MANE Select	NP_003229.1:n.933-10_933-6del
NM_001135599.4:c.1017-10_1017-6del	NP_001129071.1:n.1017-10_1017-6del
NR_138148.2:n.2184-10_2184-6del
NR_138149.2:n.2268-10_2268-6del