Canonical Allele Identifier: CA349843794

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189868738T>G (hg19) ; chr2:g.189004012T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004012T>G , CM000664.2:g.189004012T>G	GRCh38
NC_000002.11:g.189868738T>G , CM000664.1:g.189868738T>G	GRCh37
NC_000002.10:g.189576983T>G	NCBI36
NG_007404.1:g.34640T>G , LRG_3:g.34640T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2593T>G	ENSP00000415346.2:p.Ser865Ala
ENST00000304636.9:c.2692T>G MANE Select	ENSP00000304408.4:p.Ser898Ala
ENST00000304636.7:c.2692T>G	ENSP00000304408.3:p.Ser898Ala
ENST00000317840.9:c.2527+976T>G	ENSP00000315243.6:n.2527+976T>G
NM_000090.3:c.2692T>G , LRG_3t1:c.2692T>G	NP_000081.1:p.Ser898Ala
NM_000090.4:c.2692T>G MANE Select	NP_000081.2:p.Ser898Ala