Canonical Allele Identifier: CA3750773

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 262310
• ClinVar RCV Id: RCV000244944 ; RCV000834099 ; RCV001582883 ; RCV001582884 ; RCV001582885 ; RCV001582886 ; RCV001582887
• dbSNP Id: rs9277932
• ExAC: 6:33141253 T / G
• gnomAD v2: 6-33141253-T-G
• gnomAD v3: 6-33173476-T-G
• gnomAD v4: 6-33173476-T-G
• MyVariant Identifiers: chr6:g.33141253T>G (hg19) ; chr6:g.33173476T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33173476T>G , CM000668.2:g.33173476T>G	GRCh38
NC_000006.11:g.33141253T>G , CM000668.1:g.33141253T>G	GRCh37
NC_000006.10:g.33249231T>G	NCBI36
NG_011589.1:g.23993A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.1255+26A>C
ENST00000341947.7:c.2682+26A>C MANE Select	ENSP00000339915.2:n.2682+26A>C
ENST00000341947.6:c.2682+26A>C	ENSP00000339915.2:n.2682+26A>C
ENST00000361917.5:c.2361+26A>C	ENSP00000355123.1:n.2361+26A>C
ENST00000374708.8:c.2424+26A>C	ENSP00000363840.4:n.2424+26A>C
ENST00000477772.1:n.272+3533A>C
NM_080679.2:c.2361+26A>C	NP_542410.2:n.2361+26A>C
NM_080680.2:c.2682+26A>C	NP_542411.2:n.2682+26A>C
NM_080681.2:c.2424+26A>C	NP_542412.2:n.2424+26A>C
XM_011514298.1:c.1836+26A>C	XP_011512600.1:n.1836+26A>C
XM_011514299.1:c.1968+26A>C	XP_011512601.1:n.1968+26A>C
XM_011514300.1:c.1788+26A>C	XP_011512602.1:n.1788+26A>C
XM_011514301.1:c.1725+26A>C	XP_011512603.1:n.1725+26A>C
XM_011514302.1:c.1569+26A>C	XP_011512604.1:n.1569+26A>C
XM_011514299.2:c.1968+26A>C	XP_011512601.1:n.1968+26A>C
XM_011514300.2:c.1788+26A>C	XP_011512602.1:n.1788+26A>C
XM_011514302.2:c.1569+26A>C	XP_011512604.1:n.1569+26A>C
XM_017010250.1:c.2682+26A>C	XP_016865739.1:n.2682+26A>C
XM_017010251.2:c.1500+26A>C	XP_016865740.1:n.1500+26A>C
NM_080680.3:c.2682+26A>C MANE Select	NP_542411.2:n.2682+26A>C
NM_080681.3:c.2424+26A>C	NP_542412.2:n.2424+26A>C
NM_080679.3:c.2361+26A>C	NP_542410.2:n.2361+26A>C