Canonical Allele Identifier: CA2678217190

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33174367-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33174367T>G , CM000668.2:g.33174367T>G	GRCh38
NC_000006.11:g.33142144T>G , CM000668.1:g.33142144T>G	GRCh37
NC_000006.10:g.33250122T>G	NCBI36
NG_011589.1:g.23102A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361917.6:c.1004-149A>C
ENST00000341947.7:c.2431-149A>C MANE Select	ENSP00000339915.2:n.2431-149A>C
ENST00000341947.6:c.2431-149A>C	ENSP00000339915.2:n.2431-149A>C
ENST00000361917.5:c.2110-149A>C	ENSP00000355123.1:n.2110-149A>C
ENST00000374708.8:c.2173-149A>C	ENSP00000363840.4:n.2173-149A>C
ENST00000477772.1:n.272+2642A>C
NM_080679.2:c.2110-149A>C	NP_542410.2:n.2110-149A>C
NM_080680.2:c.2431-149A>C	NP_542411.2:n.2431-149A>C
NM_080681.2:c.2173-149A>C	NP_542412.2:n.2173-149A>C
XM_011514298.1:c.1585-149A>C	XP_011512600.1:n.1585-149A>C
XM_011514299.1:c.1717-149A>C	XP_011512601.1:n.1717-149A>C
XM_011514300.1:c.1537-149A>C	XP_011512602.1:n.1537-149A>C
XM_011514301.1:c.1474-149A>C	XP_011512603.1:n.1474-149A>C
XM_011514302.1:c.1318-149A>C	XP_011512604.1:n.1318-149A>C
XM_011514299.2:c.1717-149A>C	XP_011512601.1:n.1717-149A>C
XM_011514300.2:c.1537-149A>C	XP_011512602.1:n.1537-149A>C
XM_011514302.2:c.1318-149A>C	XP_011512604.1:n.1318-149A>C
XM_017010250.1:c.2431-149A>C	XP_016865739.1:n.2431-149A>C
XM_017010251.2:c.1249-149A>C	XP_016865740.1:n.1249-149A>C
NM_080680.3:c.2431-149A>C MANE Select	NP_542411.2:n.2431-149A>C
NM_080681.3:c.2173-149A>C	NP_542412.2:n.2173-149A>C
NM_080679.3:c.2110-149A>C	NP_542410.2:n.2110-149A>C