Canonical Allele Identifier: CA363616178

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164367-C-G
• MyVariant Identifiers: chr6:g.33132144C>G (hg19) ; chr6:g.33164367C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164367C>G , CM000668.2:g.33164367C>G	GRCh38
NC_000006.11:g.33132144C>G , CM000668.1:g.33132144C>G	GRCh37
NC_000006.10:g.33240122C>G	NCBI36
NG_011589.1:g.33102G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.776G>C
ENST00000341947.7:c.4970G>C MANE Select	ENSP00000339915.2:p.Gly1657Ala
ENST00000341947.6:c.4970G>C	ENSP00000339915.2:p.Gly1657Ala
ENST00000361917.5:c.4649G>C	ENSP00000355123.1:p.Gly1550Ala
ENST00000374708.8:c.4712G>C	ENSP00000363840.4:p.Gly1571Ala
ENST00000477772.1:n.760G>C
NM_080679.2:c.4649G>C	NP_542410.2:p.Gly1550Ala
NM_080680.2:c.4970G>C	NP_542411.2:p.Gly1657Ala
NM_080681.2:c.4712G>C	NP_542412.2:p.Gly1571Ala
XM_011514298.1:c.4124G>C	XP_011512600.1:p.Gly1375Ala
XM_011514299.1:c.4256G>C	XP_011512601.1:p.Gly1419Ala
XM_011514300.1:c.4076G>C	XP_011512602.1:p.Gly1359Ala
XM_011514301.1:c.4013G>C	XP_011512603.1:p.Gly1338Ala
XM_011514302.1:c.3857G>C	XP_011512604.1:p.Gly1286Ala
XM_011514299.2:c.4256G>C	XP_011512601.1:p.Gly1419Ala
XM_011514300.2:c.4076G>C	XP_011512602.1:p.Gly1359Ala
XM_011514302.2:c.3857G>C	XP_011512604.1:p.Gly1286Ala
XM_017010250.1:c.4970G>C	XP_016865739.1:p.Gly1657Ala
XM_017010251.2:c.3788G>C	XP_016865740.1:p.Gly1263Ala
NM_080680.3:c.4970G>C MANE Select	NP_542411.2:p.Gly1657Ala
NM_080681.3:c.4712G>C	NP_542412.2:p.Gly1571Ala
NM_080679.3:c.4649G>C	NP_542410.2:p.Gly1550Ala