Canonical Allele Identifier: CA3749912

Gene: COL11A2

Linked Data

• ClinVar Variation Id: 262312
• ClinVar RCV Id: RCV001153347 ; RCV001155958 ; RCV001421993 ; RCV003891980 ; RCV001153348
• dbSNP Id: rs200548977
• ExAC: 6:33131602 G / C
• gnomAD v2: 6-33131602-G-C
• gnomAD v3: 6-33163825-G-C
• gnomAD v4: 6-33163825-G-C
• MyVariant Identifiers: chr6:g.33131602G>C (hg19) ; chr6:g.33163825G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33163825G>C , CM000668.2:g.33163825G>C	GRCh38
NC_000006.11:g.33131602G>C , CM000668.1:g.33131602G>C	GRCh37
NC_000006.10:g.33239580G>C	NCBI36
NG_011589.1:g.33644C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.877-7C>G
ENST00000341947.7:c.5071-7C>G MANE Select	ENSP00000339915.2:n.5071-7C>G
ENST00000341947.6:c.5071-7C>G	ENSP00000339915.2:n.5071-7C>G
ENST00000361917.5:c.4750-7C>G	ENSP00000355123.1:n.4750-7C>G
ENST00000374708.8:c.4813-7C>G	ENSP00000363840.4:n.4813-7C>G
ENST00000477772.1:n.861-7C>G
NM_080679.2:c.4750-7C>G	NP_542410.2:n.4750-7C>G
NM_080680.2:c.5071-7C>G	NP_542411.2:n.5071-7C>G
NM_080681.2:c.4813-7C>G	NP_542412.2:n.4813-7C>G
XM_011514298.1:c.4225-7C>G	XP_011512600.1:n.4225-7C>G
XM_011514299.1:c.4357-7C>G	XP_011512601.1:n.4357-7C>G
XM_011514300.1:c.4177-7C>G	XP_011512602.1:n.4177-7C>G
XM_011514301.1:c.4114-7C>G	XP_011512603.1:n.4114-7C>G
XM_011514302.1:c.3958-7C>G	XP_011512604.1:n.3958-7C>G
XM_011514299.2:c.4357-7C>G	XP_011512601.1:n.4357-7C>G
XM_011514300.2:c.4177-7C>G	XP_011512602.1:n.4177-7C>G
XM_011514302.2:c.3958-7C>G	XP_011512604.1:n.3958-7C>G
XM_017010250.1:c.5071-7C>G	XP_016865739.1:n.5071-7C>G
XM_017010251.2:c.3889-7C>G	XP_016865740.1:n.3889-7C>G
NM_080680.3:c.5071-7C>G MANE Select	NP_542411.2:n.5071-7C>G
NM_080681.3:c.4813-7C>G	NP_542412.2:n.4813-7C>G
NM_080679.3:c.4750-7C>G	NP_542410.2:n.4750-7C>G