Canonical Allele Identifier: CA404882032

Gene: COMP

Linked Data

• gnomAD v4: 19-18785671-A-G
• MyVariant Identifiers: chr19:g.18896481A>G (hg19) ; chr19:g.18785671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785671A>G , CM000681.2:g.18785671A>G	GRCh38
NC_000019.9:g.18896481A>G , CM000681.1:g.18896481A>G	GRCh37
NC_000019.8:g.18757481A>G	NCBI36
NG_007070.1:g.10634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1668+2T>C MANE Select	ENSP00000222271.2:n.1668+2T>C
ENST00000222271.6:c.1668+2T>C	ENSP00000222271.2:n.1668+2T>C
ENST00000425807.1:c.1509+2T>C	ENSP00000403792.1:n.1509+2T>C
ENST00000542601.6:c.1569+2T>C	ENSP00000439156.2:n.1569+2T>C
NM_000095.2:c.1668+2T>C	NP_000086.2:n.1668+2T>C
NM_000095.3:c.1668+2T>C MANE Select	NP_000086.2:n.1668+2T>C