Canonical Allele Identifier: CA363617577

Gene: COL11A2

Linked Data

• gnomAD v4: 6-33164903-G-T
• MyVariant Identifiers: chr6:g.33132680G>T (hg19) ; chr6:g.33164903G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33164903G>T , CM000668.2:g.33164903G>T	GRCh38
NC_000006.11:g.33132680G>T , CM000668.1:g.33132680G>T	GRCh37
NC_000006.10:g.33240658G>T	NCBI36
NG_011589.1:g.32566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683572.1:n.618C>A
ENST00000341947.7:c.4812C>A MANE Select	ENSP00000339915.2:p.Asn1604Lys
ENST00000341947.6:c.4812C>A	ENSP00000339915.2:p.Asn1604Lys
ENST00000361917.5:c.4491C>A	ENSP00000355123.1:p.Asn1497Lys
ENST00000374708.8:c.4554C>A	ENSP00000363840.4:p.Asn1518Lys
ENST00000477772.1:n.602C>A
NM_080679.2:c.4491C>A	NP_542410.2:p.Asn1497Lys
NM_080680.2:c.4812C>A	NP_542411.2:p.Asn1604Lys
NM_080681.2:c.4554C>A	NP_542412.2:p.Asn1518Lys
XM_011514298.1:c.3966C>A	XP_011512600.1:p.Asn1322Lys
XM_011514299.1:c.4098C>A	XP_011512601.1:p.Asn1366Lys
XM_011514300.1:c.3918C>A	XP_011512602.1:p.Asn1306Lys
XM_011514301.1:c.3855C>A	XP_011512603.1:p.Asn1285Lys
XM_011514302.1:c.3699C>A	XP_011512604.1:p.Asn1233Lys
XM_011514299.2:c.4098C>A	XP_011512601.1:p.Asn1366Lys
XM_011514300.2:c.3918C>A	XP_011512602.1:p.Asn1306Lys
XM_011514302.2:c.3699C>A	XP_011512604.1:p.Asn1233Lys
XM_017010250.1:c.4812C>A	XP_016865739.1:p.Asn1604Lys
XM_017010251.2:c.3630C>A	XP_016865740.1:p.Asn1210Lys
NM_080680.3:c.4812C>A MANE Select	NP_542411.2:p.Asn1604Lys
NM_080681.3:c.4554C>A	NP_542412.2:p.Asn1518Lys
NM_080679.3:c.4491C>A	NP_542410.2:p.Asn1497Lys