Canonical Allele Identifier: CA2678226390

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164493-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164493T>A , CM000668.2:g.33164493T>A	GRCh38
NC_000006.11:g.33132270T>A , CM000668.1:g.33132270T>A	GRCh37
NC_000006.10:g.33240248T>A	NCBI36
NG_011589.1:g.32976A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.670-20A>T
ENST00000341947.7:c.4864-20A>T MANE Select	ENSP00000339915.2:n.4864-20A>T
ENST00000341947.6:c.4864-20A>T	ENSP00000339915.2:n.4864-20A>T
ENST00000361917.5:c.4543-20A>T	ENSP00000355123.1:n.4543-20A>T
ENST00000374708.8:c.4606-20A>T	ENSP00000363840.4:n.4606-20A>T
ENST00000477772.1:n.654-20A>T
NM_080679.2:c.4543-20A>T	NP_542410.2:n.4543-20A>T
NM_080680.2:c.4864-20A>T	NP_542411.2:n.4864-20A>T
NM_080681.2:c.4606-20A>T	NP_542412.2:n.4606-20A>T
XM_011514298.1:c.4018-20A>T	XP_011512600.1:n.4018-20A>T
XM_011514299.1:c.4150-20A>T	XP_011512601.1:n.4150-20A>T
XM_011514300.1:c.3970-20A>T	XP_011512602.1:n.3970-20A>T
XM_011514301.1:c.3907-20A>T	XP_011512603.1:n.3907-20A>T
XM_011514302.1:c.3751-20A>T	XP_011512604.1:n.3751-20A>T
XM_011514299.2:c.4150-20A>T	XP_011512601.1:n.4150-20A>T
XM_011514300.2:c.3970-20A>T	XP_011512602.1:n.3970-20A>T
XM_011514302.2:c.3751-20A>T	XP_011512604.1:n.3751-20A>T
XM_017010250.1:c.4864-20A>T	XP_016865739.1:n.4864-20A>T
XM_017010251.2:c.3682-20A>T	XP_016865740.1:n.3682-20A>T
NM_080680.3:c.4864-20A>T MANE Select	NP_542411.2:n.4864-20A>T
NM_080681.3:c.4606-20A>T	NP_542412.2:n.4606-20A>T
NM_080679.3:c.4543-20A>T	NP_542410.2:n.4543-20A>T