Canonical Allele Identifier: CA351202660

Gene: COL6A3

Linked Data

• MyVariant Identifiers: chr2:g.238253172T>G (hg19) ; chr2:g.237344529T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237344529T>G , CM000664.2:g.237344529T>G	GRCh38
NC_000002.11:g.238253172T>G , CM000664.1:g.238253172T>G	GRCh37
NC_000002.10:g.237917911T>G	NCBI36
NG_008676.1:g.74679A>C , LRG_473:g.74679A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000347401.8:c.134A>C
ENST00000353578.9:c.6871A>C	ENSP00000315873.4:p.Asn2291His
ENST00000295550.9:c.7489A>C MANE Select	ENSP00000295550.4:p.Asn2497His
ENST00000295550.8:c.7489A>C	ENSP00000295550.4:p.Asn2497His
ENST00000347401.7:c.5665A>C	ENSP00000315609.4:p.Asn1889His
ENST00000353578.8:c.6871A>C	ENSP00000315873.4:p.Asn2291His
ENST00000409809.5:c.6871A>C	ENSP00000386844.1:p.Asn2291His
ENST00000472056.5:c.5668A>C	ENSP00000418285.1:p.Asn1890His
ENST00000491769.1:n.1743A>C
NM_004369.3:c.7489A>C , LRG_473t1:c.7489A>C	NP_004360.2:p.Asn2497His
NM_057166.4:c.5668A>C	NP_476507.3:p.Asn1890His
NM_057167.3:c.6871A>C	NP_476508.2:p.Asn2291His
XM_005246065.1:c.6889A>C	XP_005246122.1:p.Asn2297His
XM_005246066.1:c.6268A>C	XP_005246123.1:p.Asn2090His
XM_006712253.1:c.6988A>C	XP_006712316.1:p.Asn2330His
XM_011510574.1:c.7486A>C	XP_011508876.1:p.Asn2496His
XM_011510575.1:c.5083A>C	XP_011508877.1:p.Asn1695His
XM_017003304.1:c.5083A>C	XP_016858793.1:p.Asn1695His
XM_024452684.1:c.6268A>C	XP_024308452.1:p.Asn2090His
NM_004369.4:c.7489A>C MANE Select	NP_004360.2:p.Asn2497His
NM_057166.5:c.5668A>C	NP_476507.3:p.Asn1890His
NM_057167.4:c.6871A>C	NP_476508.2:p.Asn2291His