Canonical Allele Identifier: CA1087648335

Gene: COL11A2

Linked Data

• dbSNP Id: rs1773236633
• gnomAD v3: 6-33192340-A-G
• gnomAD v4: 6-33192340-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33192340A>G , CM000668.2:g.33192340A>G	GRCh38
NC_000006.11:g.33160117A>G , CM000668.1:g.33160117A>G	GRCh37
NC_000006.10:g.33268095A>G	NCBI36
NG_011589.1:g.5129T>C
NG_023374.1:g.13316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.-100T>C MANE Select	ENSP00000339915.2:n.-100T>C
ENST00000341947.6:c.-100T>C	ENSP00000339915.2:n.-100T>C
ENST00000361917.5:c.-100T>C	ENSP00000355123.1:n.-100T>C
ENST00000374708.8:c.-100T>C	ENSP00000363840.4:n.-100T>C
ENST00000395194.1:c.-100T>C	ENSP00000378620.1:n.-100T>C
ENST00000457788.5:c.-100T>C	ENSP00000405520.1:n.-100T>C
NM_001163771.1:c.-100T>C	NP_001157243.1:n.-100T>C
NM_080679.2:c.-100T>C	NP_542410.2:n.-100T>C
NM_080680.2:c.-100T>C	NP_542411.2:n.-100T>C
NM_080681.2:c.-100T>C	NP_542412.2:n.-100T>C
XM_011514298.1:c.-765+685T>C	XP_011512600.1:n.-765+685T>C
XM_017010250.1:c.-66-34T>C	XP_016865739.1:n.-66-34T>C
NM_001163771.2:c.-100T>C	NP_001157243.1:n.-100T>C
NM_080680.3:c.-100T>C MANE Select	NP_542411.2:n.-100T>C
NM_080681.3:c.-100T>C	NP_542412.2:n.-100T>C
NM_080679.3:c.-100T>C	NP_542410.2:n.-100T>C