Canonical Allele Identifier: CA363634719

Gene: COL11A2

Linked Data

• dbSNP Id: rs1285820606
• gnomAD v2: 6-33138938-G-A
• gnomAD v4: 6-33171161-G-A
• MyVariant Identifiers: chr6:g.33138938G>A (hg19) ; chr6:g.33171161G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.33171161G>A , CM000668.2:g.33171161G>A	GRCh38
NC_000006.11:g.33138938G>A , CM000668.1:g.33138938G>A	GRCh37
NC_000006.10:g.33246916G>A	NCBI36
NG_011589.1:g.26308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341947.7:c.3319C>T MANE Select	ENSP00000339915.2:p.Pro1107Ser
ENST00000341947.6:c.3319C>T	ENSP00000339915.2:p.Pro1107Ser
ENST00000361917.5:c.2998C>T	ENSP00000355123.1:p.Pro1000Ser
ENST00000374708.8:c.3061C>T	ENSP00000363840.4:p.Pro1021Ser
ENST00000477772.1:n.273-5345C>T
NM_080679.2:c.2998C>T	NP_542410.2:p.Pro1000Ser
NM_080680.2:c.3319C>T	NP_542411.2:p.Pro1107Ser
NM_080681.2:c.3061C>T	NP_542412.2:p.Pro1021Ser
XM_011514298.1:c.2473C>T	XP_011512600.1:p.Pro825Ser
XM_011514299.1:c.2605C>T	XP_011512601.1:p.Pro869Ser
XM_011514300.1:c.2425C>T	XP_011512602.1:p.Pro809Ser
XM_011514301.1:c.2362C>T	XP_011512603.1:p.Pro788Ser
XM_011514302.1:c.2206C>T	XP_011512604.1:p.Pro736Ser
XM_011514299.2:c.2605C>T	XP_011512601.1:p.Pro869Ser
XM_011514300.2:c.2425C>T	XP_011512602.1:p.Pro809Ser
XM_011514302.2:c.2206C>T	XP_011512604.1:p.Pro736Ser
XM_017010250.1:c.3319C>T	XP_016865739.1:p.Pro1107Ser
XM_017010251.2:c.2137C>T	XP_016865740.1:p.Pro713Ser
NM_080680.3:c.3319C>T MANE Select	NP_542411.2:p.Pro1107Ser
NM_080681.3:c.3061C>T	NP_542412.2:p.Pro1021Ser
NM_080679.3:c.2998C>T	NP_542410.2:p.Pro1000Ser