Canonical Allele Identifier: CA2187802

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 895918
• ClinVar RCV Id: RCV001138289
• dbSNP Id: rs771258471
• ExAC: 2:238253223 G / A
• gnomAD v2: 2-238253223-G-A
• gnomAD v4: 2-237344580-G-A
• MyVariant Identifiers: chr2:g.238253223G>A (hg19) ; chr2:g.237344580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344580G>A , CM000664.2:g.237344580G>A	GRCh38
NC_000002.11:g.238253223G>A , CM000664.1:g.238253223G>A	GRCh37
NC_000002.10:g.237917962G>A	NCBI36
NG_008676.1:g.74628C>T , LRG_473:g.74628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.83C>T
ENST00000353578.9:c.6820C>T	ENSP00000315873.4:p.Leu2274=
ENST00000295550.9:c.7438C>T MANE Select	ENSP00000295550.4:p.Leu2480=
ENST00000295550.8:c.7438C>T	ENSP00000295550.4:p.Leu2480=
ENST00000347401.7:c.5614C>T	ENSP00000315609.4:p.Leu1872=
ENST00000353578.8:c.6820C>T	ENSP00000315873.4:p.Leu2274=
ENST00000409809.5:c.6820C>T	ENSP00000386844.1:p.Leu2274=
ENST00000472056.5:c.5617C>T	ENSP00000418285.1:p.Leu1873=
ENST00000491769.1:n.1692C>T
NM_004369.3:c.7438C>T , LRG_473t1:c.7438C>T	NP_004360.2:p.Leu2480=
NM_057166.4:c.5617C>T	NP_476507.3:p.Leu1873=
NM_057167.3:c.6820C>T	NP_476508.2:p.Leu2274=
XM_005246065.1:c.6838C>T	XP_005246122.1:p.Leu2280=
XM_005246066.1:c.6217C>T	XP_005246123.1:p.Leu2073=
XM_006712253.1:c.6937C>T	XP_006712316.1:p.Leu2313=
XM_011510574.1:c.7435C>T	XP_011508876.1:p.Leu2479=
XM_011510575.1:c.5032C>T	XP_011508877.1:p.Leu1678=
XM_017003304.1:c.5032C>T	XP_016858793.1:p.Leu1678=
XM_024452684.1:c.6217C>T	XP_024308452.1:p.Leu2073=
NM_004369.4:c.7438C>T MANE Select	NP_004360.2:p.Leu2480=
NM_057166.5:c.5617C>T	NP_476507.3:p.Leu1873=
NM_057167.4:c.6820C>T	NP_476508.2:p.Leu2274=