Canonical Allele Identifier: CA375219403

Gene: HMCN2

Linked Data

• dbSNP Id: rs1280613671
• gnomAD v3: 9-130433416-T-G
• gnomAD v4: 9-130433416-T-G
• MyVariant Identifiers: chr9:g.133308803T>G (hg19) ; chr9:g.130433416T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433416T>G , CM000671.2:g.130433416T>G	GRCh38
NC_000009.11:g.133308803T>G , CM000671.1:g.133308803T>G	GRCh37
NC_000009.10:g.132298624T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14906T>G	ENSP00000485357.2:p.Leu4969Arg
ENST00000683500.2:c.14963T>G MANE Select	ENSP00000508292.2:p.Leu4988Arg
ENST00000623487.1:n.3309T>G
ENST00000624552.3:c.14903T>G	ENSP00000485357.1:p.Leu4968Arg
NM_001291815.1:c.14963T>G	NP_001278744.1:p.Leu4988Arg
XM_011518465.1:c.14840T>G	XP_011516767.1:p.Leu4947Arg
XM_011518466.1:c.14831T>G	XP_011516768.1:p.Leu4944Arg
XM_011518467.1:c.14786T>G	XP_011516769.1:p.Leu4929Arg
NM_001291815.2:c.14963T>G MANE Select	NP_001278744.1:p.Leu4988Arg
XM_011518465.2:c.14840T>G	XP_011516767.1:p.Leu4947Arg
XM_011518466.2:c.14831T>G	XP_011516768.1:p.Leu4944Arg
XM_011518467.2:c.14786T>G	XP_011516769.1:p.Leu4929Arg
XM_017014585.1:c.11744T>G	XP_016870074.1:p.Leu3915Arg
XM_017014586.1:c.7541T>G	XP_016870075.1:p.Leu2514Arg
XR_001746957.1:n.92+205A>C
XR_001746958.1:n.92+205A>C