Canonical Allele Identifier: CA351201746

Gene: COL6A3

Linked Data

• gnomAD v4: 2-237344396-A-G
• MyVariant Identifiers: chr2:g.238253039A>G (hg19) ; chr2:g.237344396A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344396A>G , CM000664.2:g.237344396A>G	GRCh38
NC_000002.11:g.238253039A>G , CM000664.1:g.238253039A>G	GRCh37
NC_000002.10:g.237917778A>G	NCBI36
NG_008676.1:g.74812T>C , LRG_473:g.74812T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.267T>C
ENST00000353578.9:c.7004T>C	ENSP00000315873.4:p.Leu2335Ser
ENST00000295550.9:c.7622T>C MANE Select	ENSP00000295550.4:p.Leu2541Ser
ENST00000295550.8:c.7622T>C	ENSP00000295550.4:p.Leu2541Ser
ENST00000347401.7:c.5798T>C	ENSP00000315609.4:p.Leu1933Ser
ENST00000353578.8:c.7004T>C	ENSP00000315873.4:p.Leu2335Ser
ENST00000409809.5:c.7004T>C	ENSP00000386844.1:p.Leu2335Ser
ENST00000472056.5:c.5801T>C	ENSP00000418285.1:p.Leu1934Ser
ENST00000491769.1:n.1876T>C
NM_004369.3:c.7622T>C , LRG_473t1:c.7622T>C	NP_004360.2:p.Leu2541Ser
NM_057166.4:c.5801T>C	NP_476507.3:p.Leu1934Ser
NM_057167.3:c.7004T>C	NP_476508.2:p.Leu2335Ser
XM_005246065.1:c.7022T>C	XP_005246122.1:p.Leu2341Ser
XM_005246066.1:c.6401T>C	XP_005246123.1:p.Leu2134Ser
XM_006712253.1:c.7121T>C	XP_006712316.1:p.Leu2374Ser
XM_011510574.1:c.7619T>C	XP_011508876.1:p.Leu2540Ser
XM_011510575.1:c.5216T>C	XP_011508877.1:p.Leu1739Ser
XM_017003304.1:c.5216T>C	XP_016858793.1:p.Leu1739Ser
XM_024452684.1:c.6401T>C	XP_024308452.1:p.Leu2134Ser
NM_004369.4:c.7622T>C MANE Select	NP_004360.2:p.Leu2541Ser
NM_057166.5:c.5801T>C	NP_476507.3:p.Leu1934Ser
NM_057167.4:c.7004T>C	NP_476508.2:p.Leu2335Ser