Canonical Allele Identifier: CA357378613

Gene: BMP2K

Linked Data

• dbSNP Id: rs1280309414
• gnomAD v2: 4-79786815-G-A
• gnomAD v4: 4-78865661-G-A
• MyVariant Identifiers: chr4:g.79786815G>A (hg19) ; chr4:g.78865661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.78865661G>A , CM000666.2:g.78865661G>A	GRCh38
NC_000004.11:g.79786815G>A , CM000666.1:g.79786815G>A	GRCh37
NC_000004.10:g.80005839G>A	NCBI36
NG_047162.1:g.94284G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502613.3:c.1172G>A MANE Select	ENSP00000424668.2:p.Ser391Asn
ENST00000335016.9:c.1172G>A	ENSP00000334836.5:p.Ser391Asn
ENST00000389010.7:c.*148G>A	ENSP00000373662.3:n.*148G>A
ENST00000502613.1:c.249G>A
ENST00000502871.5:c.1172G>A	ENSP00000421768.1:p.Ser391Asn
ENST00000505725.1:n.454G>A
ENST00000628286.1:c.*148G>A	ENSP00000487317.1:n.*148G>A
NM_017593.3:c.1172G>A	NP_060063.2:p.Ser391Asn
NM_198892.1:c.1172G>A	NP_942595.1:p.Ser391Asn
XM_005263117.1:c.1172G>A	XP_005263174.1:p.Ser391Asn
XM_011532101.1:c.932G>A	XP_011530403.1:p.Ser311Asn
XM_011532102.1:c.1172G>A	XP_011530404.1:p.Ser391Asn
XM_017008381.1:c.932G>A	XP_016863870.1:p.Ser311Asn
XM_017008382.1:c.284G>A	XP_016863871.1:p.Ser95Asn
NM_017593.4:c.1172G>A	NP_060063.2:p.Ser391Asn
NM_017593.5:c.1172G>A	NP_060063.2:p.Ser391Asn
NM_198892.2:c.1172G>A MANE Select	NP_942595.1:p.Ser391Asn