Canonical Allele Identifier: CA37621911

Gene: TGFB2

Linked Data

• dbSNP Id: rs570390629
• gnomAD v2: 1-218610609-GGGTGA-G
• gnomAD v3: 1-218437267-GGGTGA-G
• gnomAD v4: 1-218437267-GGGTGA-G
• MyVariant Identifiers: chr1:g.218610610_218610614del (hg19) ; chr1:g.218437268_218437272del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218437272_218437276del , CM000663.2:g.218437272_218437276del	GRCh38
NC_000001.10:g.218610614_218610618del , CM000663.1:g.218610614_218610618del	GRCh37
NC_000001.9:g.216677237_216677241del	NCBI36
NG_027721.1:g.96939_96943del
NG_027721.2:g.96939_96943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366930.9:c.933-71_933-67del MANE Select	ENSP00000355897.4:n.933-71_933-67del
ENST00000366929.4:c.1017-71_1017-67del	ENSP00000355896.4:n.1017-71_1017-67del
ENST00000366930.8:c.933-71_933-67del	ENSP00000355897.4:n.933-71_933-67del
ENST00000479322.1:n.417-71_417-67del
NM_001135599.2:c.1017-71_1017-67del	NP_001129071.1:n.1017-71_1017-67del
NM_003238.3:c.933-71_933-67del	NP_003229.1:n.933-71_933-67del
NM_001135599.3:c.1017-71_1017-67del	NP_001129071.1:n.1017-71_1017-67del
NM_003238.4:c.933-71_933-67del	NP_003229.1:n.933-71_933-67del
NR_138148.1:n.2236-71_2236-67del
NR_138149.1:n.2320-71_2320-67del
NM_003238.5:c.933-71_933-67del	NP_003229.1:n.933-71_933-67del
NM_003238.6:c.933-71_933-67del MANE Select	NP_003229.1:n.933-71_933-67del
NM_001135599.4:c.1017-71_1017-67del	NP_001129071.1:n.1017-71_1017-67del
NR_138148.2:n.2184-71_2184-67del
NR_138149.2:n.2268-71_2268-67del