Canonical Allele Identifier: CA351195052

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237340559-A-G
• MyVariant Identifiers: chr2:g.238249202A>G (hg19) ; chr2:g.237340559A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237340559A>G , CM000664.2:g.237340559A>G	GRCh38
NC_000002.11:g.238249202A>G , CM000664.1:g.238249202A>G	GRCh37
NC_000002.10:g.237913941A>G	NCBI36
NG_008676.1:g.78649T>C , LRG_473:g.78649T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1002T>C
ENST00000353578.9:c.7739T>C	ENSP00000315873.4:p.Phe2580Ser
ENST00000682957.1:c.360T>C
ENST00000684508.1:n.624T>C
ENST00000295550.9:c.8357T>C MANE Select	ENSP00000295550.4:p.Phe2786Ser
ENST00000295550.8:c.8357T>C	ENSP00000295550.4:p.Phe2786Ser
ENST00000347401.7:c.6533T>C	ENSP00000315609.4:p.Phe2178Ser
ENST00000353578.8:c.7739T>C	ENSP00000315873.4:p.Phe2580Ser
ENST00000409809.5:c.7739T>C	ENSP00000386844.1:p.Phe2580Ser
ENST00000468792.1:n.44T>C
ENST00000472056.5:c.6536T>C	ENSP00000418285.1:p.Phe2179Ser
ENST00000491769.1:n.4799T>C
NM_004369.3:c.8357T>C , LRG_473t1:c.8357T>C	NP_004360.2:p.Phe2786Ser
NM_057166.4:c.6536T>C	NP_476507.3:p.Phe2179Ser
NM_057167.3:c.7739T>C	NP_476508.2:p.Phe2580Ser
XM_005246065.1:c.7757T>C	XP_005246122.1:p.Phe2586Ser
XM_005246066.1:c.7136T>C	XP_005246123.1:p.Phe2379Ser
XM_006712253.1:c.7856T>C	XP_006712316.1:p.Phe2619Ser
XM_011510574.1:c.8354T>C	XP_011508876.1:p.Phe2785Ser
XM_011510575.1:c.5951T>C	XP_011508877.1:p.Phe1984Ser
XM_017003304.1:c.5951T>C	XP_016858793.1:p.Phe1984Ser
XM_024452684.1:c.7136T>C	XP_024308452.1:p.Phe2379Ser
NM_004369.4:c.8357T>C MANE Select	NP_004360.2:p.Phe2786Ser
NM_057166.5:c.6536T>C	NP_476507.3:p.Phe2179Ser
NM_057167.4:c.7739T>C	NP_476508.2:p.Phe2580Ser