Canonical Allele Identifier: CA449867256

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164870-A-G
• MyVariant Identifiers: chr6:g.33132647A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164870A>G , CM000668.2:g.33164870A>G	GRCh38
NC_000006.11:g.33132647A>G , CM000668.1:g.33132647A>G	GRCh37
NC_000006.10:g.33240625A>G	NCBI36
NG_011589.1:g.32599T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000683572.1:n.651T>C
ENST00000341947.7:c.4845T>C MANE Select	ENSP00000339915.2:p.Pro1615=
ENST00000341947.6:c.4845T>C	ENSP00000339915.2:p.Pro1615=
ENST00000361917.5:c.4524T>C	ENSP00000355123.1:p.Pro1508=
ENST00000374708.8:c.4587T>C	ENSP00000363840.4:p.Pro1529=
ENST00000477772.1:n.635T>C
NM_080679.2:c.4524T>C	NP_542410.2:p.Pro1508=
NM_080680.2:c.4845T>C	NP_542411.2:p.Pro1615=
NM_080681.2:c.4587T>C	NP_542412.2:p.Pro1529=
XM_011514298.1:c.3999T>C	XP_011512600.1:p.Pro1333=
XM_011514299.1:c.4131T>C	XP_011512601.1:p.Pro1377=
XM_011514300.1:c.3951T>C	XP_011512602.1:p.Pro1317=
XM_011514301.1:c.3888T>C	XP_011512603.1:p.Pro1296=
XM_011514302.1:c.3732T>C	XP_011512604.1:p.Pro1244=
XM_011514299.2:c.4131T>C	XP_011512601.1:p.Pro1377=
XM_011514300.2:c.3951T>C	XP_011512602.1:p.Pro1317=
XM_011514302.2:c.3732T>C	XP_011512604.1:p.Pro1244=
XM_017010250.1:c.4845T>C	XP_016865739.1:p.Pro1615=
XM_017010251.2:c.3663T>C	XP_016865740.1:p.Pro1221=
NM_080680.3:c.4845T>C MANE Select	NP_542411.2:p.Pro1615=
NM_080681.3:c.4587T>C	NP_542412.2:p.Pro1529=
NM_080679.3:c.4524T>C	NP_542410.2:p.Pro1508=