Canonical Allele Identifier: CA375219632

Gene: HMCN2

Linked Data

• dbSNP Id: rs1387318589
• gnomAD v2: 9-133308862-G-C
• gnomAD v4: 9-130433475-G-C
• MyVariant Identifiers: chr9:g.133308862G>C (hg19) ; chr9:g.130433475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433475G>C , CM000671.2:g.130433475G>C	GRCh38
NC_000009.11:g.133308862G>C , CM000671.1:g.133308862G>C	GRCh37
NC_000009.10:g.132298683G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14965G>C	ENSP00000485357.2:p.Glu4989Gln
ENST00000683500.2:c.15022G>C MANE Select	ENSP00000508292.2:p.Glu5008Gln
ENST00000623487.1:n.3368G>C
ENST00000624552.3:c.14962G>C	ENSP00000485357.1:p.Glu4988Gln
NM_001291815.1:c.15022G>C	NP_001278744.1:p.Glu5008Gln
XM_011518465.1:c.14899G>C	XP_011516767.1:p.Glu4967Gln
XM_011518466.1:c.14890G>C	XP_011516768.1:p.Glu4964Gln
XM_011518467.1:c.14845G>C	XP_011516769.1:p.Glu4949Gln
NM_001291815.2:c.15022G>C MANE Select	NP_001278744.1:p.Glu5008Gln
XM_011518465.2:c.14899G>C	XP_011516767.1:p.Glu4967Gln
XM_011518466.2:c.14890G>C	XP_011516768.1:p.Glu4964Gln
XM_011518467.2:c.14845G>C	XP_011516769.1:p.Glu4949Gln
XM_017014585.1:c.11803G>C	XP_016870074.1:p.Glu3935Gln
XM_017014586.1:c.7600G>C	XP_016870075.1:p.Glu2534Gln
XR_001746957.1:n.92+146C>G
XR_001746958.1:n.92+146C>G