Canonical Allele Identifier: CA832019727

Gene: CAV2

Linked Data

• dbSNP Id: rs1410393239
• gnomAD v3: 7-116508164-A-G
• gnomAD v4: 7-116508164-A-G
• MyVariant Identifiers: chr7:g.116148218A>G (hg19) ; chr7:g.116508164A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116508164A>G , CM000669.2:g.116508164A>G	GRCh38
NC_000007.13:g.116148218A>G , CM000669.1:g.116148218A>G	GRCh37
NC_000007.12:g.115935454A>G	NCBI36
NG_029920.1:g.13564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222693.5:c.*2043A>G MANE Select	ENSP00000222693.4:n.*2043A>G
ENST00000222693.4:c.*2043A>G	ENSP00000222693.4:n.*2043A>G
NM_001206747.1:c.*2043A>G	NP_001193676.1:n.*2043A>G
NM_001206748.1:c.*2043A>G	NP_001193677.1:n.*2043A>G
NM_001233.4:c.*2043A>G	NP_001224.1:n.*2043A>G
NM_198212.2:c.*2005A>G	NP_937855.1:n.*2005A>G
NM_001233.5:c.*2043A>G MANE Select	NP_001224.1:n.*2043A>G
NM_001206747.2:c.*2043A>G	NP_001193676.1:n.*2043A>G
NM_001206748.2:c.*2043A>G	NP_001193677.1:n.*2043A>G
NM_198212.3:c.*2005A>G	NP_937855.1:n.*2005A>G