Canonical Allele Identifier: CA1087642801

Gene: COL11A2

Linked Data

• dbSNP Id: rs1770603811
• gnomAD v3: 6-33174379-C-G
• gnomAD v4: 6-33174379-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174379C>G , CM000668.2:g.33174379C>G	GRCh38
NC_000006.11:g.33142156C>G , CM000668.1:g.33142156C>G	GRCh37
NC_000006.10:g.33250134C>G	NCBI36
NG_011589.1:g.23090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.1003+148G>C
ENST00000341947.7:c.2430+148G>C MANE Select	ENSP00000339915.2:n.2430+148G>C
ENST00000341947.6:c.2430+148G>C	ENSP00000339915.2:n.2430+148G>C
ENST00000361917.5:c.2109+148G>C	ENSP00000355123.1:n.2109+148G>C
ENST00000374708.8:c.2172+148G>C	ENSP00000363840.4:n.2172+148G>C
ENST00000477772.1:n.272+2630G>C
NM_080679.2:c.2109+148G>C	NP_542410.2:n.2109+148G>C
NM_080680.2:c.2430+148G>C	NP_542411.2:n.2430+148G>C
NM_080681.2:c.2172+148G>C	NP_542412.2:n.2172+148G>C
XM_011514298.1:c.1584+148G>C	XP_011512600.1:n.1584+148G>C
XM_011514299.1:c.1716+148G>C	XP_011512601.1:n.1716+148G>C
XM_011514300.1:c.1536+148G>C	XP_011512602.1:n.1536+148G>C
XM_011514301.1:c.1473+148G>C	XP_011512603.1:n.1473+148G>C
XM_011514302.1:c.1317+148G>C	XP_011512604.1:n.1317+148G>C
XM_011514299.2:c.1716+148G>C	XP_011512601.1:n.1716+148G>C
XM_011514300.2:c.1536+148G>C	XP_011512602.1:n.1536+148G>C
XM_011514302.2:c.1317+148G>C	XP_011512604.1:n.1317+148G>C
XM_017010250.1:c.2430+148G>C	XP_016865739.1:n.2430+148G>C
XM_017010251.2:c.1248+148G>C	XP_016865740.1:n.1248+148G>C
NM_080680.3:c.2430+148G>C MANE Select	NP_542411.2:n.2430+148G>C
NM_080681.3:c.2172+148G>C	NP_542412.2:n.2172+148G>C
NM_080679.3:c.2109+148G>C	NP_542410.2:n.2109+148G>C