Canonical Allele Identifier: CA824014499

Gene: COL11A2

Linked Data

• dbSNP Id: rs1283757474
• gnomAD v3: 6-33192246-A-G
• gnomAD v4: 6-33192246-A-G
• MyVariant Identifiers: chr6:g.33160023A>G (hg19) ; chr6:g.33192246A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192246A>G , CM000668.2:g.33192246A>G	GRCh38
NC_000006.11:g.33160023A>G , CM000668.1:g.33160023A>G	GRCh37
NC_000006.10:g.33268001A>G	NCBI36
NG_011589.1:g.5223T>C
NG_023374.1:g.13410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.-6T>C MANE Select	ENSP00000339915.2:n.-6T>C
ENST00000341947.6:c.-6T>C	ENSP00000339915.2:n.-6T>C
ENST00000361917.5:c.-6T>C	ENSP00000355123.1:n.-6T>C
ENST00000374708.8:c.-6T>C	ENSP00000363840.4:n.-6T>C
ENST00000395194.1:c.-6T>C	ENSP00000378620.1:n.-6T>C
ENST00000457788.5:c.-6T>C	ENSP00000405520.1:n.-6T>C
NM_001163771.1:c.-6T>C	NP_001157243.1:n.-6T>C
NM_080679.2:c.-6T>C	NP_542410.2:n.-6T>C
NM_080680.2:c.-6T>C	NP_542411.2:n.-6T>C
NM_080681.2:c.-6T>C	NP_542412.2:n.-6T>C
XM_011514298.1:c.-765+779T>C	XP_011512600.1:n.-765+779T>C
XM_017010250.1:c.-6T>C	XP_016865739.1:n.-6T>C
NM_001163771.2:c.-6T>C	NP_001157243.1:n.-6T>C
NM_080680.3:c.-6T>C MANE Select	NP_542411.2:n.-6T>C
NM_080681.3:c.-6T>C	NP_542412.2:n.-6T>C
NM_080679.3:c.-6T>C	NP_542410.2:n.-6T>C