Canonical Allele Identifier: CA49795534

Gene: TGFA

Linked Data

• dbSNP Id: rs11466285
• gnomAD v2: 2-70677439-A-G
• gnomAD v3: 2-70450307-A-G
• gnomAD v4: 2-70450307-A-G
• MyVariant Identifiers: chr2:g.70677439A>G (hg19) ; chr2:g.70450307A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.70450307A>G , CM000664.2:g.70450307A>G	GRCh38
NC_000002.11:g.70677439A>G , CM000664.1:g.70677439A>G	GRCh37
NC_000002.10:g.70530947A>G	NCBI36
NG_029975.1:g.108709T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000295400.11:c.*552T>C MANE Select	ENSP00000295400.6:n.*552T>C
ENST00000295400.10:c.*552T>C	ENSP00000295400.6:n.*552T>C
ENST00000418333.6:c.*552T>C	ENSP00000404099.2:n.*552T>C
ENST00000419940.5:c.379-686T>C
ENST00000445399.5:c.*19-686T>C	ENSP00000387493.1:n.*19-686T>C
NM_001099691.2:c.*552T>C	NP_001093161.1:n.*552T>C
NM_001308158.1:c.*552T>C	NP_001295087.1:n.*552T>C
NM_001308159.1:c.*552T>C	NP_001295088.1:n.*552T>C
NM_003236.3:c.*552T>C	NP_003227.1:n.*552T>C
NM_003236.4:c.*552T>C MANE Select	NP_003227.1:n.*552T>C
NM_001099691.3:c.*552T>C	NP_001093161.1:n.*552T>C
NM_001308158.2:c.*552T>C	NP_001295087.1:n.*552T>C
NM_001308159.2:c.*552T>C	NP_001295088.1:n.*552T>C