Canonical Allele Identifier: CA765144

Gene: COL8A2

Linked Data

• ClinVar Variation Id: 1640745
• ClinVar RCV Id: RCV002131868
• dbSNP Id: rs201740362
• ExAC: 1:36565098 A / G
• gnomAD v2: 1-36565098-A-G
• gnomAD v3: 1-36099497-A-G
• gnomAD v4: 1-36099497-A-G
• MyVariant Identifiers: chr1:g.36565098A>G (hg19) ; chr1:g.36099497A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36099497A>G , CM000663.2:g.36099497A>G	GRCh38
NC_000001.10:g.36565098A>G , CM000663.1:g.36565098A>G	GRCh37
NC_000001.9:g.36337685A>G	NCBI36
NG_016245.2:g.30588T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397799.2:c.194-10T>C MANE Select	ENSP00000380901.1:n.194-10T>C
ENST00000303143.9:c.194-10T>C	ENSP00000305913.4:n.194-10T>C
ENST00000397799.1:c.194-10T>C	ENSP00000380901.1:n.194-10T>C
ENST00000481785.1:c.-2-10T>C	ENSP00000436433.1:n.-2-10T>C
ENST00000615990.1:c.194-10T>C	ENSP00000484406.1:n.194-10T>C
NM_001294347.1:c.-2-10T>C	NP_001281276.1:n.-2-10T>C
NM_005202.3:c.194-10T>C	NP_005193.1:n.194-10T>C
XM_005270477.2:c.425-10T>C	XP_005270534.1:n.425-10T>C
XM_005270477.3:c.425-10T>C	XP_005270534.1:n.425-10T>C
NM_005202.4:c.194-10T>C MANE Select	NP_005193.1:n.194-10T>C
NM_001294347.2:c.-2-10T>C	NP_001281276.1:n.-2-10T>C