Canonical Allele Identifier: CA2678226606

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164704-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164704A>G , CM000668.2:g.33164704A>G	GRCh38
NC_000006.11:g.33132481A>G , CM000668.1:g.33132481A>G	GRCh37
NC_000006.10:g.33240459A>G	NCBI36
NG_011589.1:g.32765T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.669+148T>C
ENST00000341947.7:c.4863+148T>C MANE Select	ENSP00000339915.2:n.4863+148T>C
ENST00000341947.6:c.4863+148T>C	ENSP00000339915.2:n.4863+148T>C
ENST00000361917.5:c.4542+148T>C	ENSP00000355123.1:n.4542+148T>C
ENST00000374708.8:c.4605+148T>C	ENSP00000363840.4:n.4605+148T>C
ENST00000477772.1:n.653+148T>C
NM_080679.2:c.4542+148T>C	NP_542410.2:n.4542+148T>C
NM_080680.2:c.4863+148T>C	NP_542411.2:n.4863+148T>C
NM_080681.2:c.4605+148T>C	NP_542412.2:n.4605+148T>C
XM_011514298.1:c.4017+148T>C	XP_011512600.1:n.4017+148T>C
XM_011514299.1:c.4149+148T>C	XP_011512601.1:n.4149+148T>C
XM_011514300.1:c.3969+148T>C	XP_011512602.1:n.3969+148T>C
XM_011514301.1:c.3906+148T>C	XP_011512603.1:n.3906+148T>C
XM_011514302.1:c.3750+148T>C	XP_011512604.1:n.3750+148T>C
XM_011514299.2:c.4149+148T>C	XP_011512601.1:n.4149+148T>C
XM_011514300.2:c.3969+148T>C	XP_011512602.1:n.3969+148T>C
XM_011514302.2:c.3750+148T>C	XP_011512604.1:n.3750+148T>C
XM_017010250.1:c.4863+148T>C	XP_016865739.1:n.4863+148T>C
XM_017010251.2:c.3681+148T>C	XP_016865740.1:n.3681+148T>C
NM_080680.3:c.4863+148T>C MANE Select	NP_542411.2:n.4863+148T>C
NM_080681.3:c.4605+148T>C	NP_542412.2:n.4605+148T>C
NM_080679.3:c.4542+148T>C	NP_542410.2:n.4542+148T>C