Canonical Allele Identifier: CA344727976

Gene: TGFB2

Linked Data

• MyVariant Identifiers: chr1:g.218614647A>T (hg19) ; chr1:g.218441305A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.218441305A>T , CM000663.2:g.218441305A>T	GRCh38
NC_000001.10:g.218614647A>T , CM000663.1:g.218614647A>T	GRCh37
NC_000001.9:g.216681270A>T	NCBI36
NG_027721.1:g.100972A>T
NG_027721.2:g.100972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366930.9:c.1188A>T MANE Select	ENSP00000355897.4:p.Lys396Asn
ENST00000366929.4:c.1272A>T	ENSP00000355896.4:p.Lys424Asn
ENST00000366930.8:c.1188A>T	ENSP00000355897.4:p.Lys396Asn
ENST00000479322.1:n.672A>T
NM_001135599.2:c.1272A>T	NP_001129071.1:p.Lys424Asn
NM_003238.3:c.1188A>T	NP_003229.1:p.Lys396Asn
NM_001135599.3:c.1272A>T	NP_001129071.1:p.Lys424Asn
NM_003238.4:c.1188A>T	NP_003229.1:p.Lys396Asn
NR_138148.1:n.2491A>T
NR_138149.1:n.2575A>T
NM_003238.5:c.1188A>T	NP_003229.1:p.Lys396Asn
NM_003238.6:c.1188A>T MANE Select	NP_003229.1:p.Lys396Asn
NM_001135599.4:c.1272A>T	NP_001129071.1:p.Lys424Asn
NR_138148.2:n.2439A>T
NR_138149.2:n.2523A>T