Canonical Allele Identifier: CA2187433

Gene: COL6A3

Linked Data

• ClinVar Variation Id: 502371
• ClinVar RCV Id: RCV000598205 ; RCV000804675
• dbSNP Id: rs376021820
• ExAC: 2:238244897 G / A
• gnomAD v2: 2-238244897-G-A
• gnomAD v3: 2-237336254-G-A
• gnomAD v4: 2-237336254-G-A
• MyVariant Identifiers: chr2:g.238244897G>A (hg19) ; chr2:g.237336254G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237336254G>A , CM000664.2:g.237336254G>A	GRCh38
NC_000002.11:g.238244897G>A , CM000664.1:g.238244897G>A	GRCh37
NC_000002.10:g.237909636G>A	NCBI36
NG_008676.1:g.82954C>T , LRG_473:g.82954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347401.8:c.1491C>T
ENST00000353578.9:c.8228C>T	ENSP00000315873.4:p.Pro2743Leu
ENST00000682957.1:c.973C>T
ENST00000684508.1:n.1113C>T
ENST00000295550.9:c.8846C>T MANE Select	ENSP00000295550.4:p.Pro2949Leu
ENST00000295550.8:c.8846C>T	ENSP00000295550.4:p.Pro2949Leu
ENST00000347401.7:c.7022C>T	ENSP00000315609.4:p.Pro2341Leu
ENST00000353578.8:c.8228C>T	ENSP00000315873.4:p.Pro2743Leu
ENST00000409809.5:c.8228C>T	ENSP00000386844.1:p.Pro2743Leu
ENST00000472056.5:c.7025C>T	ENSP00000418285.1:p.Pro2342Leu
ENST00000491769.1:n.5288C>T
NM_004369.3:c.8846C>T , LRG_473t1:c.8846C>T	NP_004360.2:p.Pro2949Leu
NM_057166.4:c.7025C>T	NP_476507.3:p.Pro2342Leu
NM_057167.3:c.8228C>T	NP_476508.2:p.Pro2743Leu
XM_005246065.1:c.8246C>T	XP_005246122.1:p.Pro2749Leu
XM_005246066.1:c.7625C>T	XP_005246123.1:p.Pro2542Leu
XM_006712253.1:c.8345C>T	XP_006712316.1:p.Pro2782Leu
XM_011510574.1:c.8843C>T	XP_011508876.1:p.Pro2948Leu
XM_011510575.1:c.6440C>T	XP_011508877.1:p.Pro2147Leu
XM_017003304.1:c.6440C>T	XP_016858793.1:p.Pro2147Leu
XM_024452684.1:c.7625C>T	XP_024308452.1:p.Pro2542Leu
NM_004369.4:c.8846C>T MANE Select	NP_004360.2:p.Pro2949Leu
NM_057166.5:c.7025C>T	NP_476507.3:p.Pro2342Leu
NM_057167.4:c.8228C>T	NP_476508.2:p.Pro2743Leu