Canonical Allele Identifier: CA3749954

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 517184
• ClinVar RCV Id: RCV000606664 ; RCV003411460 ; RCV002461929
• dbSNP Id: rs770715075
• ExAC: 6:33132190 G / C
• gnomAD v2: 6-33132190-G-C
• gnomAD v3: 6-33164413-G-C
• gnomAD v4: 6-33164413-G-C
• MyVariant Identifiers: chr6:g.33132190G>C (hg19) ; chr6:g.33164413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164413G>C , CM000668.2:g.33164413G>C	GRCh38
NC_000006.11:g.33132190G>C , CM000668.1:g.33132190G>C	GRCh37
NC_000006.10:g.33240168G>C	NCBI36
NG_011589.1:g.33056C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.730C>G
ENST00000341947.7:c.4924C>G MANE Select	ENSP00000339915.2:p.Leu1642Val
ENST00000341947.6:c.4924C>G	ENSP00000339915.2:p.Leu1642Val
ENST00000361917.5:c.4603C>G	ENSP00000355123.1:p.Leu1535Val
ENST00000374708.8:c.4666C>G	ENSP00000363840.4:p.Leu1556Val
ENST00000477772.1:n.714C>G
NM_080679.2:c.4603C>G	NP_542410.2:p.Leu1535Val
NM_080680.2:c.4924C>G	NP_542411.2:p.Leu1642Val
NM_080681.2:c.4666C>G	NP_542412.2:p.Leu1556Val
XM_011514298.1:c.4078C>G	XP_011512600.1:p.Leu1360Val
XM_011514299.1:c.4210C>G	XP_011512601.1:p.Leu1404Val
XM_011514300.1:c.4030C>G	XP_011512602.1:p.Leu1344Val
XM_011514301.1:c.3967C>G	XP_011512603.1:p.Leu1323Val
XM_011514302.1:c.3811C>G	XP_011512604.1:p.Leu1271Val
XM_011514299.2:c.4210C>G	XP_011512601.1:p.Leu1404Val
XM_011514300.2:c.4030C>G	XP_011512602.1:p.Leu1344Val
XM_011514302.2:c.3811C>G	XP_011512604.1:p.Leu1271Val
XM_017010250.1:c.4924C>G	XP_016865739.1:p.Leu1642Val
XM_017010251.2:c.3742C>G	XP_016865740.1:p.Leu1248Val
NM_080680.3:c.4924C>G MANE Select	NP_542411.2:p.Leu1642Val
NM_080681.3:c.4666C>G	NP_542412.2:p.Leu1556Val
NM_080679.3:c.4603C>G	NP_542410.2:p.Leu1535Val