Canonical Allele Identifier: CA2664866503

Gene: TGFBR2

Linked Data

• gnomAD v4: 3-30606691-G-GTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.30606691_30606692insTCTT , CM000665.2:g.30606691_30606692insTCTT	GRCh38
NC_000003.11:g.30648183_30648184insTCTT , CM000665.1:g.30648183_30648184insTCTT	GRCh37
NC_000003.10:g.30623187_30623188insTCTT	NCBI36
NG_007490.1:g.5190_5191insTCTT , LRG_779:g.5190_5191insTCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295754.10:c.-193_-192insTCTT MANE Select	ENSP00000295754.5:n.-193_-192insTCTT
ENST00000295754.9:c.-193_-192insTCTT	ENSP00000295754.5:n.-193_-192insTCTT
ENST00000359013.4:c.-193_-192insTCTT	ENSP00000351905.4:n.-193_-192insTCTT
NM_001024847.2:c.-193_-192insTCTT , LRG_779t1:c.-193_-192insTCTT	NP_001020018.1:n.-193_-192insTCTT
NM_003242.5:c.-193_-192insTCTT	NP_003233.4:n.-193_-192insTCTT
XM_011534045.1:c.-12+98_-12+99insTCTT	XP_011532347.1:n.-12+98_-12+99insTCTT
XM_011534045.3:c.-12+98_-12+99insTCTT	XP_011532347.1:n.-12+98_-12+99insTCTT
NM_003242.6:c.-193_-192insTCTT MANE Select	NP_003233.4:n.-193_-192insTCTT